Submissions for variant NM_000257.4(MYH7):c.5484C>T (p.Ala1828=)

gnomAD frequency: 0.00002  dbSNP: rs202175645

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000420619	SCV000515507	likely benign	not specified	2016-10-07	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.
Ambry Genetics	RCV000617973	SCV000735775	likely benign	Cardiovascular phenotype	2017-02-10	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
Color Diagnostics, LLC DBA Color Health	RCV000776310	SCV000911631	likely benign	Cardiomyopathy	2018-09-28	criteria provided, single submitter	clinical testing
Invitae	RCV001523117	SCV001732776	benign	Hypertrophic cardiomyopathy	2023-11-19	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000776310	SCV003838742	benign	Cardiomyopathy	2021-09-02	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003972583	SCV004791585	likely benign	MYH7-related condition	2024-03-03	criteria provided, single submitter	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).