| - GRCh37:
- Chr1:45796937
- GRCh38:
- Chr1:45331265
| MUTYH | P465A, P451A, P345A, P437A, P438A, P322A, P452A, P448A, P462A | Retinoblastoma, not specified, not provided,
Hereditary cancer-predisposing syndrome, MYH-associated polyposis | Uncertain significance
(Sep 11, 2020) | criteria provided, multiple submitters, no conflicts | VCV000141925 |
| - GRCh37:
- Chr2:29448384
- GRCh38:
- Chr2:29225518
| ALK | V1039M | Retinoblastoma, Neuroblastoma 3 | Uncertain significance
(Dec 18, 2019) | criteria provided, multiple submitters, no conflicts | VCV000404367 |
| - GRCh37:
- Chr5:112178400
- GRCh38:
- Chr5:112842703
| APC | G2352V, G2370V, G2087V, G2269V, G2388V, G2210V, G2311V, G2329V, G2342V, G2380V, G2244V, G2345V, G2279V | not specified, Hereditary cancer-predisposing syndrome, Retinoblastoma,
Familial adenomatous polyposis 1 | Conflicting interpretations of pathogenicity
(Jun 26, 2020) | criteria provided, conflicting interpretations | VCV000236640 |
| - GRCh37:
- Chr9:21970966
- GRCh38:
- Chr9:21970967
| CDKN2A | R131H, R80H | Retinoblastoma | Uncertain significance
(Sep 26, 2016) | criteria provided, single submitter | VCV000620615 |
| - GRCh37:
- Chr9:98209235
- GRCh38:
- Chr9:95446953
| PTCH1 | V1369M, V1435M, V1383M, V1434M, V1284M | Hereditary cancer-predisposing syndrome, Retinoblastoma, Gorlin syndrome,
not specified | Uncertain significance
(Dec 23, 2019) | criteria provided, multiple submitters, no conflicts | VCV000135107 |
| - GRCh37:
- Chr9:98242290
- GRCh38:
- Chr9:95480008
| PTCH1 | V277A, V343A, V342A, V192A | Retinoblastoma, Gorlin syndrome, Hereditary cancer-predisposing syndrome
| Uncertain significance
(Nov 11, 2019) | criteria provided, multiple submitters, no conflicts | VCV000620620 |
| - GRCh37:
- Chr9:98268874
- GRCh38:
- Chr9:95506592
| PTCH1 | A4V, A70V, A69V | Gorlin syndrome, Retinoblastoma | Uncertain significance
(Feb 18, 2019) | criteria provided, multiple submitters, no conflicts | VCV000620617 |
| - GRCh37:
- Chr13:32900681
- GRCh38:
- Chr13:32326544
| BRCA2 | V188M | not provided, Hereditary breast and ovarian cancer syndrome, Retinoblastoma,
Hereditary cancer-predisposing syndrome | Uncertain significance
(Feb 5, 2020) | criteria provided, multiple submitters, no conflicts | VCV000441524 |
| - GRCh37:
- Chr13:32953905
- GRCh38:
- Chr13:32379768
| BRCA2 | R2991H | Breast-ovarian cancer, familial 2, not specified, Retinoblastoma,
Hereditary breast and ovarian cancer syndrome, Hereditary cancer-predisposing syndrome | Conflicting interpretations of pathogenicity
(Jul 30, 2020) | criteria provided, conflicting interpretations | VCV000038200 |
| - GRCh37:
- Chr13:48877851
- GRCh38:
- Chr13:48303715
| RB1 | | Hereditary cancer-predisposing syndrome, Retinoblastoma | Pathogenic
(Jan 24, 2019) | criteria provided, single submitter | VCV000013086 |
| - GRCh37:
- Chr13:48877860
- GRCh38:
- Chr13:48303724
| RB1 | | Retinoblastoma | Pathogenic
(Sep 5, 1991) | no assertion criteria provided | VCV000013085 |
| - GRCh37:
- Chr13:48877893
- GRCh38:
- Chr13:48303757
| RB1 | | Retinoblastoma | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter | VCV000312278 |
| - GRCh37:
- Chr13:48877894
- GRCh38:
- Chr13:48303758
| RB1 | | Retinoblastoma | Uncertain significance
(Apr 6, 2018) | criteria provided, single submitter | VCV000882643 |
| - GRCh37:
- Chr13:48877896
- GRCh38:
- Chr13:48303760
| RB1 | | Retinoblastoma | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter | VCV000312279 |
| - GRCh37:
- Chr13:48877900
- GRCh38:
- Chr13:48303764
| RB1 | | Retinoblastoma | Uncertain significance
(Aug 27, 2020) | criteria provided, single submitter | VCV000997629 |
| - GRCh37:
- Chr13:48877949
- GRCh38:
- Chr13:48303813
| RB1 | | Retinoblastoma | Uncertain significance
(Mar 30, 2018) | criteria provided, single submitter | VCV000882644 |
| - GRCh37:
- Chr13:48877968
- GRCh38:
- Chr13:48303832
| RB1 | | Retinoblastoma | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter | VCV000312280 |
| - GRCh37:
- Chr13:48877980
- GRCh38:
- Chr13:48303844
| RB1 | | not provided, Retinoblastoma | Conflicting interpretations of pathogenicity
(Sep 4, 2018) | criteria provided, conflicting interpretations | VCV000312281 |
| - GRCh37:
- Chr13:48878039-48881552
- GRCh38:
- Chr13:48303903-48307416
| RB1 | | Retinoblastoma | Pathogenic
(Aug 11, 2018) | criteria provided, single submitter | VCV000645883 |
| - GRCh37:
- Chr13:48878039-49054217
- GRCh38:
- Chr13:48303903-48480081
| RB1, LPAR6 | | Retinoblastoma | Pathogenic
(Nov 8, 2019) | criteria provided, single submitter | VCV000583677 |
| - GRCh37:
- Chr13:48878043-49054213
- GRCh38:
- Chr13:48303907-48480077
| RB1, LPAR6 | | Retinoblastoma | Pathogenic
(Mar 12, 2018) | criteria provided, single submitter | VCV000527953 |
| - GRCh37:
- Chr13:48878052
- GRCh38:
- Chr13:48303916
| RB1 | P2T | Retinoblastoma | Uncertain significance
(Sep 6, 2019) | criteria provided, single submitter | VCV000956496 |
| - GRCh37:
- Chr13:48878059
- GRCh38:
- Chr13:48303923
| RB1 | K4R | Retinoblastoma | Uncertain significance
(Mar 8, 2019) | criteria provided, single submitter | VCV000852967 |
| - GRCh37:
- Chr13:48878061
- GRCh38:
- Chr13:48303925
| RB1 | T5A | Retinoblastoma | Uncertain significance
(Mar 17, 2019) | criteria provided, single submitter | VCV000860944 |
| - GRCh37:
- Chr13:48878061
- GRCh38:
- Chr13:48303925
| RB1 | T5P | Retinoblastoma | Uncertain significance
(Dec 21, 2017) | criteria provided, single submitter | VCV000527924 |
| - GRCh37:
- Chr13:48878061-48878062
- GRCh38:
- Chr13:48303925-48303926
| RB1 | R7fs | Hereditary cancer-predisposing syndrome, Retinoblastoma | Pathogenic
(Oct 15, 2019) | criteria provided, multiple submitters, no conflicts | VCV000428670 |
| - GRCh37:
- Chr13:48878062
- GRCh38:
- Chr13:48303926
| RB1 | T5I | Retinoblastoma | Uncertain significance
(Oct 2, 2019) | criteria provided, single submitter | VCV000653621 |
| - GRCh37:
- Chr13:48878064
- GRCh38:
- Chr13:48303928
| RB1 | P6S | not provided, Retinoblastoma | Conflicting interpretations of pathogenicity
(Dec 31, 2019) | criteria provided, conflicting interpretations | VCV000285560 |
| - GRCh37:
- Chr13:48878066
- GRCh38:
- Chr13:48303930
| RB1 | | Hereditary cancer-predisposing syndrome, Retinoblastoma | Likely benign
(Dec 31, 2019) | criteria provided, multiple submitters, no conflicts | VCV000706912 |
| - GRCh37:
- Chr13:48878067
- GRCh38:
- Chr13:48303931
| RB1 | | Retinoblastoma | Likely benign
(Nov 16, 2020) | criteria provided, single submitter | VCV000942011 |
| - GRCh37:
- Chr13:48878068
- GRCh38:
- Chr13:48303932
| RB1 | R7Q | Retinoblastoma | Uncertain significance
(Oct 19, 2019) | criteria provided, single submitter | VCV000938239 |
| - GRCh37:
- Chr13:48878076-48878084
- GRCh38:
- Chr13:48303940-48303948
| RB1 | | Hereditary cancer-predisposing syndrome, Retinoblastoma | Conflicting interpretations of pathogenicity
(Dec 1, 2019) | criteria provided, conflicting interpretations | VCV000410933 |
| - GRCh37:
- Chr13:48878077-48878108
- GRCh38:
- Chr13:48303941-48303972
| RB1 | A11fs | Retinoblastoma | Likely pathogenic
(May 28, 2019) | criteria provided, single submitter | VCV000802963 |
| - GRCh37:
- Chr13:48878078
- GRCh38:
- Chr13:48303942
| RB1 | | Retinoblastoma, Hereditary cancer-predisposing syndrome | Likely benign
(Dec 31, 2019) | criteria provided, multiple submitters, no conflicts | VCV000458164 |
| - GRCh37:
- Chr13:48878078
- GRCh38:
- Chr13:48303942
| RB1 | | Retinoblastoma | Likely benign
(Jun 23, 2017) | criteria provided, single submitter | VCV000416488 |
| - GRCh37:
- Chr13:48878079
- GRCh38:
- Chr13:48303943
| RB1 | A11S | Retinoblastoma | Uncertain significance
(Sep 16, 2013) | no assertion criteria provided | VCV000126816 |
| - GRCh37:
- Chr13:48878080
- GRCh38:
- Chr13:48303944
| RB1 | A11G | Retinoblastoma | Uncertain significance
(Nov 2, 2017) | criteria provided, single submitter | VCV000527927 |
| - GRCh37:
- Chr13:48878081-48878112
- GRCh38:
- Chr13:48303945-48303976
| RB1 | A17fs | Retinoblastoma | Pathogenic
(Nov 16, 2018) | criteria provided, single submitter | VCV000659361 |
| - GRCh37:
- Chr13:48878082
- GRCh38:
- Chr13:48303946
| RB1 | T12A | Retinoblastoma | Uncertain significance
(Oct 23, 2018) | criteria provided, single submitter | VCV000664603 |
| - GRCh37:
- Chr13:48878082
- GRCh38:
- Chr13:48303946
| RB1 | T12S | Hereditary cancer-predisposing syndrome, Retinoblastoma | Uncertain significance
(Oct 21, 2019) | criteria provided, multiple submitters, no conflicts | VCV000580275 |
| - GRCh37:
- Chr13:48878083
- GRCh38:
- Chr13:48303947
| RB1 | A13fs | Retinoblastoma | Pathogenic
(Jun 4, 2018) | criteria provided, single submitter | VCV000580945 |
| - GRCh37:
- Chr13:48878084-48878112
- GRCh38:
- Chr13:48303948-48303976
| RB1 | A13fs | Retinoblastoma | Pathogenic
(May 25, 2018) | criteria provided, single submitter | VCV000410951 |
| - GRCh37:
- Chr13:48878085-48878093
- GRCh38:
- Chr13:48303949-48303957
| RB1 | | Hereditary cancer-predisposing syndrome, not specified, none provided,
Retinoblastoma | Benign
(May 28, 2020) | criteria provided, multiple submitters, no conflicts | VCV000193082 |
| - GRCh37:
- Chr13:48878087-48878088
- GRCh38:
- Chr13:48303951-48303952
| RB1 | | Retinoblastoma | Uncertain significance
(Nov 4, 2019) | criteria provided, single submitter | VCV000853363 |
| - GRCh37:
- Chr13:48878088-48878089
- GRCh38:
- Chr13:48303952-48303953
| RB1 | P24fs | Retinoblastoma | Pathogenic
(Apr 27, 2018) | criteria provided, single submitter | VCV000567591 |
| - GRCh37:
- Chr13:48878089-48878090
- GRCh38:
- Chr13:48303953-48303954
| RB1 | P23fs | Retinoblastoma | Pathogenic
(Feb 1, 2007) | no assertion criteria provided | VCV000013095 |
| - GRCh37:
- Chr13:48878090
- GRCh38:
- Chr13:48303954
| RB1 | | Retinoblastoma, not provided, not specified,
Hereditary cancer-predisposing syndrome | Benign/Likely benign
(Dec 31, 2019) | criteria provided, multiple submitters, no conflicts | VCV000237673 |
| - GRCh37:
- Chr13:48878092
- GRCh38:
- Chr13:48303956
| RB1 | A15G | Retinoblastoma | Uncertain significance
(Feb 14, 2018) | criteria provided, single submitter | VCV000571777 |
| - GRCh37:
- Chr13:48878093-48878094
- GRCh38:
- Chr13:48303957-48303958
| RB1 | P26fs | Hereditary cancer-predisposing syndrome, Retinoblastoma | Pathogenic
(Oct 17, 2018) | criteria provided, multiple submitters, no conflicts | VCV000428668 |
| - GRCh37:
- Chr13:48878094-48878096
- GRCh38:
- Chr13:48303958-48303960
| RB1 | A18del | Retinoblastoma | Uncertain significance
(Dec 12, 2019) | criteria provided, single submitter | VCV000847451 |
| - GRCh37:
- Chr13:48878094-48878095
- GRCh38:
- Chr13:48303958-48303959
| RB1 | P25fs | Retinoblastoma | Pathogenic
(Jun 13, 2017) | criteria provided, single submitter | VCV000458171 |
| - GRCh37:
- Chr13:48878100
- GRCh38:
- Chr13:48303964
| RB1 | A18T | Retinoblastoma | Uncertain significance
(Oct 29, 2018) | criteria provided, single submitter | VCV000648128 |
| - GRCh37:
- Chr13:48878100
- GRCh38:
- Chr13:48303964
| RB1 | A18S | Retinoblastoma, Hereditary cancer-predisposing syndrome | Benign
(Dec 31, 2019) | criteria provided, multiple submitters, no conflicts | VCV000237674 |
| - GRCh37:
- Chr13:48878106-48878118
- GRCh38:
- Chr13:48303970-48303982
| RB1 | P20fs | Retinoblastoma | Pathogenic
(Nov 16, 2019) | criteria provided, single submitter | VCV000958244 |
| - GRCh37:
- Chr13:48878107
- GRCh38:
- Chr13:48303971
| RB1 | P20L | Hereditary cancer-predisposing syndrome, Retinoblastoma, not specified
| Conflicting interpretations of pathogenicity
(Apr 9, 2020) | criteria provided, conflicting interpretations | VCV000135115 |
| - GRCh37:
- Chr13:48878108
- GRCh38:
- Chr13:48303972
| RB1 | | Retinoblastoma | Likely benign
(Dec 31, 2019) | criteria provided, single submitter | VCV000796079 |
| - GRCh37:
- Chr13:48878110
- GRCh38:
- Chr13:48303974
| RB1 | P21L | Retinoblastoma | Likely benign
(Dec 31, 2019) | criteria provided, single submitter | VCV000576223 |
| - GRCh37:
- Chr13:48878111
- GRCh38:
- Chr13:48303975
| RB1 | | Retinoblastoma | Uncertain significance
(Sep 21, 2019) | criteria provided, single submitter | VCV000954160 |
| - GRCh37:
- Chr13:48878114-48878115
- GRCh38:
- Chr13:48303978-48303979
| RB1 | | Hereditary cancer-predisposing syndrome, Retinoblastoma | Uncertain significance
(Jul 27, 2020) | criteria provided, multiple submitters, no conflicts | VCV000486294 |
| - GRCh37:
- Chr13:48878115
- GRCh38:
- Chr13:48303979
| RB1 | P23T | Retinoblastoma | Uncertain significance
(Jul 24, 2019) | criteria provided, single submitter | VCV000949259 |
| - GRCh37:
- Chr13:48878115
- GRCh38:
- Chr13:48303979
| RB1 | P23S | Retinoblastoma | Uncertain significance
(Apr 26, 2019) | criteria provided, single submitter | VCV000835973 |
| - GRCh37:
- Chr13:48878115-48878117
- GRCh38:
- Chr13:48303979-48303981
| RB1 | P29del | Hereditary cancer-predisposing syndrome, Retinoblastoma | Conflicting interpretations of pathogenicity
(Dec 31, 2019) | criteria provided, conflicting interpretations | VCV000410949 |
| - GRCh37:
- Chr13:48878116
- GRCh38:
- Chr13:48303980
| RB1 | P23Q | Retinoblastoma | Uncertain significance
(Dec 17, 2019) | criteria provided, single submitter | VCV000845766 |
| - GRCh37:
- Chr13:48878123-48878124
- GRCh38:
- Chr13:48303987-48303988
| RB1 | | Retinoblastoma | Uncertain significance
(Feb 25, 2019) | criteria provided, single submitter | VCV000527901 |
| - GRCh37:
- Chr13:48878127
- GRCh38:
- Chr13:48303991
| RB1 | P28fs | Retinoblastoma | Pathogenic
(Sep 11, 2018) | criteria provided, single submitter | VCV000580564 |
| - GRCh37:
- Chr13:48878128
- GRCh38:
- Chr13:48303992
| RB1 | P27R | Retinoblastoma | Uncertain significance
(Jun 4, 2019) | criteria provided, single submitter | VCV000943645 |
| - GRCh37:
- Chr13:48878129
- GRCh38:
- Chr13:48303993
| RB1 | | Retinoblastoma | Likely benign
(Aug 11, 2017) | criteria provided, single submitter | VCV000458184 |
| - GRCh37:
- Chr13:48878131
- GRCh38:
- Chr13:48303995
| RB1 | P28L | Retinoblastoma | Uncertain significance
(Apr 9, 2018) | criteria provided, single submitter | VCV000568297 |
| - GRCh37:
- Chr13:48878131
- GRCh38:
- Chr13:48303995
| RB1 | P28R | Hereditary cancer-predisposing syndrome, Retinoblastoma | Conflicting interpretations of pathogenicity
(Dec 31, 2019) | criteria provided, conflicting interpretations | VCV000410943 |
| - GRCh37:
- Chr13:48878134
- GRCh38:
- Chr13:48303998
| RB1 | P29L | Retinoblastoma | Uncertain significance
(Dec 11, 2019) | criteria provided, single submitter | VCV000861822 |
| - GRCh37:
- Chr13:48878136
- GRCh38:
- Chr13:48304000
| RB1 | E30Q | Retinoblastoma, Hereditary cancer-predisposing syndrome | Uncertain significance
(Aug 24, 2019) | criteria provided, multiple submitters, no conflicts | VCV000486285 |
| - GRCh37:
- Chr13:48878137
- GRCh38:
- Chr13:48304001
| RB1 | E30A | Hereditary cancer-predisposing syndrome, Retinoblastoma | Uncertain significance
(Mar 30, 2020) | criteria provided, multiple submitters, no conflicts | VCV000645423 |
| - GRCh37:
- Chr13:48878139-48878140
- GRCh38:
- Chr13:48304003-48304004
| RB1 | D32fs | Retinoblastoma | Pathogenic
(Aug 5, 2016) | criteria provided, single submitter | VCV000590845 |
| - GRCh37:
- Chr13:48878142
- GRCh38:
- Chr13:48304006
| RB1 | D32N | not provided, Retinoblastoma | Uncertain significance
(Oct 1, 2019) | criteria provided, multiple submitters, no conflicts | VCV000639029 |
| - GRCh37:
- Chr13:48878143-48878144
- GRCh38:
- Chr13:48304007-48304008
| RB1 | E34fs | Retinoblastoma | Pathogenic
(May 17, 2019) | criteria provided, single submitter | VCV000845216 |
| - GRCh37:
- Chr13:48878146
- GRCh38:
- Chr13:48304010
| RB1 | P33L | Retinoblastoma | Uncertain significance
(May 7, 2018) | criteria provided, single submitter | VCV000572128 |
| - GRCh37:
- Chr13:48878151
- GRCh38:
- Chr13:48304015
| RB1 | Q35* | Retinoblastoma | Pathogenic
(Aug 22, 2019) | criteria provided, single submitter | VCV000126818 |
| - GRCh37:
- Chr13:48878152
- GRCh38:
- Chr13:48304016
| RB1 | Q35L | Retinoblastoma, Hereditary cancer-predisposing syndrome | Uncertain significance
(Dec 26, 2019) | criteria provided, multiple submitters, no conflicts | VCV000577029 |
| - GRCh37:
- Chr13:48878154
- GRCh38:
- Chr13:48304018
| RB1 | D36N | Retinoblastoma, Hereditary cancer-predisposing syndrome | Likely benign
(Aug 13, 2020) | criteria provided, multiple submitters, no conflicts | VCV000458113 |
| - GRCh37:
- Chr13:48878157
- GRCh38:
- Chr13:48304021
| RB1 | S37G | Retinoblastoma, Hereditary cancer-predisposing syndrome | Conflicting interpretations of pathogenicity
(Dec 31, 2019) | criteria provided, conflicting interpretations | VCV000527919 |
| - GRCh37:
- Chr13:48878157
- GRCh38:
- Chr13:48304021
| RB1 | S37R | Retinoblastoma | Uncertain significance
(Nov 1, 2017) | criteria provided, single submitter | VCV000527902 |
| - GRCh37:
- Chr13:48878161
- GRCh38:
- Chr13:48304025
| RB1 | G38D | Hereditary cancer-predisposing syndrome, Retinoblastoma | Benign/Likely benign
(Dec 31, 2019) | criteria provided, multiple submitters, no conflicts | VCV000410930 |
| - GRCh37:
- Chr13:48878161-48878163
- GRCh38:
- Chr13:48304025-48304027
| RB1 | G38fs | Retinoblastoma | Pathogenic
(Sep 16, 2013) | no assertion criteria provided | VCV000126819 |
| - GRCh37:
- Chr13:48878162
- GRCh38:
- Chr13:48304026
| RB1 | | Hereditary cancer-predisposing syndrome, Retinoblastoma | Likely benign
(Apr 5, 2019) | criteria provided, multiple submitters, no conflicts | VCV000527951 |
| - GRCh37:
- Chr13:48878164
- GRCh38:
- Chr13:48304028
| RB1 | P39L | Hereditary cancer-predisposing syndrome, Retinoblastoma | Conflicting interpretations of pathogenicity
(Dec 31, 2019) | criteria provided, conflicting interpretations | VCV000527911 |
| - GRCh37:
- Chr13:48878166
- GRCh38:
- Chr13:48304030
| RB1 | E40K | Retinoblastoma | Uncertain significance
(Dec 4, 2018) | criteria provided, single submitter | VCV000654914 |
| - GRCh37:
- Chr13:48878172
- GRCh38:
- Chr13:48304036
| RB1 | L42M | Retinoblastoma | Uncertain significance
(May 9, 2019) | criteria provided, single submitter | VCV000853974 |
| - GRCh37:
- Chr13:48878172
- GRCh38:
- Chr13:48304036
| RB1 | L42V | Retinoblastoma | Uncertain significance
(May 28, 2019) | criteria provided, single submitter | VCV000802964 |
| - GRCh37:
- Chr13:48878173
- GRCh38:
- Chr13:48304037
| RB1 | L42Q | Retinoblastoma | Uncertain significance
(Nov 26, 2018) | criteria provided, single submitter | VCV000643222 |
| - GRCh37:
- Chr13:48878178
- GRCh38:
- Chr13:48304042
| RB1 | L44I | Retinoblastoma | Uncertain significance
(Dec 5, 2018) | criteria provided, single submitter | VCV000653263 |
| - GRCh37:
- Chr13:48878191
- GRCh38:
- Chr13:48304055
| RB1 | | Retinoblastoma | Uncertain significance
(Dec 27, 2019) | criteria provided, single submitter | VCV000574592 |
| - GRCh37:
- Chr13:48878191
- GRCh38:
- Chr13:48304055
| RB1 | | Retinoblastoma | Likely benign
(Dec 1, 2020) | criteria provided, single submitter | VCV000458122 |
| - GRCh37:
- Chr13:48878198
- GRCh38:
- Chr13:48304062
| RB1 | | Retinoblastoma | Benign
(Jan 13, 2018) | criteria provided, single submitter | VCV000882645 |
| - GRCh37:
- Chr13:48881406-48923169
- GRCh38:
- Chr13:48307270-48349033
| RB1 | | Retinoblastoma | Pathogenic
(Oct 16, 2018) | criteria provided, single submitter | VCV000654679 |
| - GRCh37:
- Chr13:48881408
- GRCh38:
- Chr13:48307272
| RB1 | | Retinoblastoma | Likely benign
(Dec 31, 2019) | criteria provided, single submitter | VCV000416504 |
| - GRCh37:
- Chr13:48881410-48923165
- GRCh38:
- Chr13:48307274-48349029
| RB1 | | Retinoblastoma | Pathogenic
(Mar 9, 2017) | criteria provided, single submitter | VCV000458111 |
| - GRCh37:
- Chr13:48881417
- GRCh38:
- Chr13:48307281
| RB1 | L47F | Retinoblastoma | Uncertain significance
(Dec 16, 2019) | criteria provided, single submitter | VCV000835394 |
| - GRCh37:
- Chr13:48881426
- GRCh38:
- Chr13:48307290
| RB1 | E50Q | Retinoblastoma | Uncertain significance
(Dec 17, 2019) | criteria provided, single submitter | VCV000410937 |
| - GRCh37:
- Chr13:48881433
- GRCh38:
- Chr13:48307297
| RB1 | T52I | Hereditary cancer-predisposing syndrome, Retinoblastoma | Uncertain significance
(Oct 28, 2019) | criteria provided, multiple submitters, no conflicts | VCV000568481 |
| - GRCh37:
- Chr13:48881434-48881436
- GRCh38:
- Chr13:48307298-48307300
| RB1 | E54del | Retinoblastoma | Uncertain significance
(Jun 5, 2019) | criteria provided, single submitter | VCV000935662 |