Submissions for variant NM_002471.4(MYH6):c.408C>T (p.Ala136=)

gnomAD frequency: 0.00024  dbSNP: rs140732380

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000230930	SCV000287421	likely benign	Hypertrophic cardiomyopathy 14	2024-01-15	criteria provided, single submitter	clinical testing
GeneDx	RCV001697258	SCV000724472	likely benign	not provided	2019-02-08	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001170252	SCV001332812	benign	Cardiomyopathy	2018-02-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002321869	SCV002628972	likely benign	Cardiovascular phenotype	2018-10-04	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003993899	SCV004813923	benign	not specified	2024-02-05	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004541388	SCV004784797	likely benign	MYH6-related disorder	2019-03-07	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).