Submissions for variant NM_000257.4(MYH7):c.3864C>G (p.Ser1288=)

gnomAD frequency: 0.00469  dbSNP: rs45501694

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ClinGen Cardiomyopathy Variant Curation Expert Panel	RCV000758027	SCV000564482	benign	Cardiomyopathy	2016-12-15	reviewed by expert panel	curation	The filtering allele frequency of the c.3864C>G (p.Ser1288=) variant in the MYH7 gene is 1.33% (159/10404) of African chromosomes by the Exome Aggregation Consortium (http://exac.broadinstitute.org), which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen Inherited Cardiomyopathy Expert Panel (BA1; PMID:29300372).
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000035872	SCV000059523	benign	not specified	2008-01-24	criteria provided, single submitter	clinical testing
GeneDx	RCV000035872	SCV000170528	benign	not specified	2011-06-27	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000206817	SCV000260027	benign	Hypertrophic cardiomyopathy	2024-01-31	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000035872	SCV000303229	benign	not specified		criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000758027	SCV001345530	benign	Cardiomyopathy	2018-03-07	criteria provided, single submitter	clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000035872	SCV001433423	benign	not specified	2020-05-30	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV002227050	SCV002506040	benign	not provided	2022-02-08	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002496542	SCV002808396	likely benign	Hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Congenital myopathy with fiber type disproportion; Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy	2021-07-26	criteria provided, single submitter	clinical testing
Cohesion Phenomics	RCV000206817	SCV003803026	benign	Hypertrophic cardiomyopathy	2022-10-10	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000758027	SCV004819109	benign	Cardiomyopathy	2024-02-05	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV002227050	SCV005291474	benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV000035872	SCV001917828	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000035872	SCV001951765	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000035872	SCV001970633	benign	not specified		no assertion criteria provided	clinical testing