Submissions for variant NM_002471.4(MYH6):c.1485C>T (p.Phe495=)

gnomAD frequency: 0.00009  dbSNP: rs181613656

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001088623	SCV000648224	likely benign	Hypertrophic cardiomyopathy 14	2024-01-04	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000618990	SCV000739927	likely benign	Cardiovascular phenotype	2016-02-01	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.
GeneDx	RCV000827560	SCV000969213	likely benign	not provided	2018-05-24	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	RCV001293466	SCV001482037	benign	not specified	2021-02-22	criteria provided, single submitter	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000827560	SCV001953715	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000827560	SCV001973355	likely benign	not provided		no assertion criteria provided	clinical testing