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Items: 12

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr2:47702388
GRCh38:
Chr2:47475249
MSH2Lynch syndrome, not providedPathogenic
(May 19, 2016)
criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr2:47639682
GRCh38:
Chr2:47412543
MSH2Lynch syndrome, not specified, Hereditary cancer-predisposing syndrome
Uncertain significance
(Apr 28, 2017)
criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr2:47637301
GRCh38:
Chr2:47410162
MSH2Lynch syndrome, not specified, Hereditary cancer-predisposing syndrome,
Colorectal cancer, non-polyposis
Uncertain significance
(Sep 5, 2013)
reviewed by expert panel
4.
GRCh37:
Chr2:47710068
GRCh38:
Chr2:47482929
MSH2Lynch syndrome I, Lynch syndrome, not specified,
Hereditary cancer-predisposing syndrome
Uncertain significance
(Oct 28, 2015)
reviewed by expert panel
5.
GRCh37:
Chr2:47703631
GRCh38:
Chr2:47476492
MSH2Lynch syndrome, not provided, Hereditary cancer-predisposing syndrome
Pathogenic
(Sep 5, 2013)
reviewed by expert panel
6.
GRCh37:
Chr2:47630331
GRCh38:
Chr2:47403192
MSH2Lynch syndrome I, Lynch syndrome, not specified,
Hereditary cancer-predisposing syndrome
Uncertain significance
(Sep 5, 2013)
reviewed by expert panel
7.
GRCh37:
Chr2:47657026
GRCh38:
Chr2:47429887
MSH2Lynch syndrome, not provided, Hereditary cancer-predisposing syndrome
Pathogenic
(Sep 5, 2013)
reviewed by expert panel
8.
GRCh37:
Chr3:37035129-37035130
GRCh38:
Chr3:36993638-36993639
MLH1Lynch syndrome II, Lynch syndrome, not specified,
Hereditary cancer-predisposing syndrome
Uncertain significance
(Sep 5, 2013)
reviewed by expert panel
9.
GRCh37:
Chr3:37061796
GRCh38:
Chr3:37020305
MLH1Lynch syndrome, not specified, Hereditary cancer-predisposing syndrome
Likely benign
(Sep 5, 2013)
reviewed by expert panel
10.
GRCh37:
Chr3:37053590
GRCh38:
Chr3:37012099
MLH1Lynch syndrome II, Lynch syndrome, not provided,
Hereditary cancer-predisposing syndrome
Pathogenic
(Sep 5, 2013)
reviewed by expert panel
11.
GRCh37:
Chr3:37067449
GRCh38:
Chr3:37025958
MLH1Lynch syndrome II, Lynch syndrome, not specified,
Hereditary cancer-predisposing syndrome
Uncertain significance
(Sep 5, 2013)
reviewed by expert panel
12.
GRCh37:
Chr2:47630334
GRCh38:
Chr2:47403195
MSH2Lynch syndrome I, Lynch syndrome, not specified,
not provided, Hereditary cancer-predisposing syndrome
Uncertain significance
(Mar 1, 2014)
reviewed by expert panel
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