ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.4136C>T (p.Thr1379Met) (rs145611185)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000157339 SCV000207076 uncertain significance Primary familial hypertrophic cardiomyopathy 2013-12-20 no assertion criteria provided clinical testing
Invitae RCV000233729 SCV000287422 likely benign Familial hypertrophic cardiomyopathy 14 2017-06-12 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000216382 SCV000272024 uncertain significance not specified 2015-08-06 criteria provided, single submitter clinical testing The p.Thr1379Met variant in MYH6 has not been previously reported in individuals with cardiomyopathy, but has been identified in 0.1% (72/66714) of European chr omosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.o rg; dbSNP rs145611185). Computational prediction tools and conservation analysis suggest that the p.Thr1379Met variant may impact the protein, though this infor mation is not predictive enough to determine pathogenicity. In summary, the clin ical significance of the p.Thr1379Met variant is uncertain.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000216382 SCV000740618 likely benign not specified 2016-11-25 criteria provided, single submitter clinical testing

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