Submissions for variant NM_002471.4(MYH6):c.4899C>T (p.His1633=)

gnomAD frequency: 0.00517  dbSNP: rs61742474

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037519	SCV000061177	benign	not specified	2012-02-23	criteria provided, single submitter	clinical testing	His1633His in exon 33 of MYH6: This variant is not expected to have clinical sig nificance because it has been identified in 1.2% (44/3738) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs61742474).
Invitae	RCV000230251	SCV000287432	benign	Hypertrophic cardiomyopathy 14	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000252935	SCV000318210	benign	Cardiovascular phenotype	2016-07-13	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
GeneDx	RCV000037519	SCV000714291	benign	not specified	2017-04-14	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	RCV000770430	SCV000901873	benign	Cardiomyopathy	2016-12-01	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001811261	SCV002049920	benign	not provided	2023-10-14	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000037519	SCV001922578	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000037519	SCV001928351	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000037519	SCV001975205	benign	not specified		no assertion criteria provided	clinical testing