Submissions for variant NM_000257.4(MYH7):c.531C>T (p.Thr177=)

gnomAD frequency: 0.00003  dbSNP: rs200035152

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000230876	SCV000284284	likely benign	Hypertrophic cardiomyopathy	2024-01-04	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002347860	SCV002646795	likely benign	Cardiovascular phenotype	2020-01-08	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.
Color Diagnostics, LLC DBA Color Health	RCV003532064	SCV004356973	likely benign	Cardiomyopathy	2021-10-19	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV003532064	SCV004832348	likely benign	Cardiomyopathy	2023-10-27	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV001699073	SCV001917381	benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001726060	SCV001962862	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001726060	SCV001979741	likely benign	not provided		no assertion criteria provided	clinical testing