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

gnomAD frequency: 0.00368  dbSNP: rs74039310

Total submissions: 10

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
Labcorp Genetics (formerly Invitae), Labcorp	RCV000232125	SCV000287427	benign	Hypertrophic cardiomyopathy 14	2025-01-30	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
Breakthrough Genomics, Breakthrough Genomics	RCV004706462	SCV005232852	benign	not provided		criteria provided, single submitter	not provided
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
PreventionGenetics, part of Exact Sciences	RCV004534788	SCV004754294	benign	MYH6-related disorder	2019-09-18	no assertion criteria provided	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).