ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.4395G>A (p.Ser1465=)

gnomAD frequency: 0.00368  dbSNP: rs74039310
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000037505 SCV000061163 benign not specified 2012-02-07 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000037505 SCV000229422 benign not specified 2014-12-16 criteria provided, single submitter clinical testing
Invitae RCV000232125 SCV000287427 benign Hypertrophic cardiomyopathy 14 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000037505 SCV000532103 benign not specified 2016-10-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000037505 SCV001437260 benign not specified 2020-09-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004534788 SCV004754294 benign MYH6-related disorder 2019-09-18 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Clinical Genetics, Academic Medical Center RCV000037505 SCV001920631 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000037505 SCV001927630 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000037505 SCV001975335 benign not specified no assertion criteria provided clinical testing

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