Submissions for variant NM_002471.4(MYH6):c.2127G>A (p.Lys709=)

gnomAD frequency: 0.00003  dbSNP: rs765316931

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001704723	SCV000714691	likely benign	not provided	2019-12-05	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002062820	SCV002377605	likely benign	Hypertrophic cardiomyopathy 14	2023-08-11	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002420589	SCV002728455	likely benign	Cardiovascular phenotype	2019-12-18	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences	RCV004543410	SCV004791926	likely benign	MYH6-related disorder	2024-02-01	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).