Submissions for variant NM_002471.4(MYH6):c.3573C>T (p.Ala1191=)

gnomAD frequency: 0.00054  dbSNP: rs727505358

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000156920	SCV000206641	likely benign	not specified	2014-12-11	criteria provided, single submitter	clinical testing	p.Ala1191Ala in exon 26 of MYH6: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 0.1% (53/49738) o f European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org).
Ambry Genetics	RCV000249483	SCV000320307	likely benign	Cardiovascular phenotype	2015-11-04	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000466529	SCV000557897	benign	Hypertrophic cardiomyopathy 14	2024-12-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000156920	SCV000731194	likely benign	not specified	2017-06-28	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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000769416	SCV000900809	benign	Cardiomyopathy	2017-10-23	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001311848	SCV001502185	likely benign	not provided	2023-02-01	criteria provided, single submitter	clinical testing	MYH6: BP4, BP7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001311848	SCV004563034	likely benign	not provided	2023-10-13	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000156920	SCV005039610	benign	not specified	2024-03-11	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001311848	SCV005211374	likely benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV000156920	SCV001919110	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001311848	SCV001929918	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001311848	SCV001974334	likely benign	not provided		no assertion criteria provided	clinical testing