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Items: 23

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr3:46899903
GRCh38:
Chr3:46858413
MYL3Primary familial hypertrophic cardiomyopathy, not specified, Hypertrophic cardiomyopathy
Conflicting interpretations of pathogenicity
(Nov 30, 2016)
criteria provided, conflicting interpretations
2.
GRCh37:
Chr3:46899915
GRCh38:
Chr3:46858425
MYL3not providedPathogenic
(Nov 1, 2011)
criteria provided, single submitter
3.
GRCh37:
Chr3:46899961
GRCh38:
Chr3:46858471
MYL3not providedLikely pathogeniccriteria provided, single submitter
4.
GRCh37:
Chr3:46900983
GRCh38:
Chr3:46859493
MYL3not providedPathogenic
(Jul 22, 2013)
criteria provided, single submitter
5.
GRCh37:
Chr3:46900985
GRCh38:
Chr3:46859495
MYL3Familial hypertrophic cardiomyopathy 8, Familial restrictive cardiomyopathy 1, Familial hypertrophic cardiomyopathy 1,
not specified, Cardiovascular phenotype
Conflicting interpretations of pathogenicity
(Mar 29, 2017)
criteria provided, conflicting interpretations
6.
GRCh37:
Chr3:46900989
GRCh38:
Chr3:46859499
MYL3not providedPathogenic
(Apr 3, 2015)
criteria provided, single submitter
7.
GRCh37:
Chr3:46900992
GRCh38:
Chr3:46859502
MYL3not providedLikely pathogenic
(Sep 16, 2015)
criteria provided, single submitter
8.
GRCh37:
Chr3:46900995
GRCh38:
Chr3:46859505
MYL3Primary familial hypertrophic cardiomyopathy, not providedConflicting interpretations of pathogenicity
(Dec 12, 2016)
criteria provided, conflicting interpretations
9.
GRCh37:
Chr3:46900999
GRCh38:
Chr3:46859509
MYL3not providedLikely pathogenic
(May 30, 2017)
criteria provided, single submitter
10.
GRCh37:
Chr3:46900999
GRCh38:
Chr3:46859509
MYL3Primary familial hypertrophic cardiomyopathyLikely pathogenic
(Mar 6, 2014)
no assertion criteria provided
11.
GRCh37:
Chr3:46901001
GRCh38:
Chr3:46859511
MYL3Familial hypertrophic cardiomyopathy 8, not provided, Hypertrophic cardiomyopathy
Pathogenic
(Jan 24, 2017)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr3:46901019
GRCh38:
Chr3:46859529
MYL3Familial hypertrophic cardiomyopathy 8, not specified, not provided,
Hypertrophic cardiomyopathy, Cardiovascular phenotype
Conflicting interpretations of pathogenicity
(Feb 1, 2017)
criteria provided, conflicting interpretations
13.
GRCh37:
Chr3:46901063
GRCh38:
Chr3:46859573
MYL3Primary familial hypertrophic cardiomyopathyLikely pathogenic
(Oct 20, 2015)
criteria provided, single submitter
14.
GRCh37:
Chr3:46902192
GRCh38:
Chr3:46860702
MYL3Familial hypertrophic cardiomyopathy 8, Primary familial hypertrophic cardiomyopathy, not provided
Pathogenic/Likely pathogenic
(Aug 1, 2015)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr3:46902238
GRCh38:
Chr3:46860748
MYL3Primary familial hypertrophic cardiomyopathyLikely pathogenic
(Jun 1, 2014)
no assertion criteria provided
16.
GRCh37:
Chr3:46902279
GRCh38:
Chr3:46860789
MYL3not providedLikely pathogenic
(Jun 10, 2014)
criteria provided, single submitter
17.
GRCh37:
Chr3:46902280
GRCh38:
Chr3:46860790
MYL3not providedLikely pathogenic
(Sep 23, 2011)
criteria provided, single submitter
18.
GRCh37:
Chr3:46902289
GRCh38:
Chr3:46860799
MYL3not specified, not providedConflicting interpretations of pathogenicity
(Jun 25, 2015)
criteria provided, conflicting interpretations
19.
GRCh37:
Chr3:46902303
GRCh38:
Chr3:46860813
MYL3Primary familial hypertrophic cardiomyopathy, Cardiomyopathy, not specified,
not provided
Conflicting interpretations of pathogenicity
(May 18, 2017)
criteria provided, conflicting interpretations
20.
GRCh37:
Chr3:46902303
GRCh38:
Chr3:46860813
MYL3Primary familial hypertrophic cardiomyopathy, not provided, Hypertrophic cardiomyopathy,
Cardiovascular phenotype
Pathogenic
(May 1, 2017)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr3:37028313-49929220
See casesLikely pathogenic
(Jan 20, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr3:46768104-47009805
GRCh38:
Chr3:46726614-46968315
MYL3, PTH1R, CCDC12, PRSS42, PRSS45, PRSS44, PRSS46, PRSS43See casesPathogenic
(Aug 13, 2012)
no assertion criteria provided
23.
GRCh37:
Chr3:45921375-50787353
GRCh38:
Chr3:45879883-50749922
See casesPathogenic
(Sep 23, 2013)
no assertion criteria provided
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