ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.-5C>A

gnomAD frequency: 0.00438  dbSNP: rs183611755
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000151230 SCV000199097 benign not specified 2012-03-19 criteria provided, single submitter clinical testing c.-5C>A in Exon 03 of MYH6: This variant is not expected to have clinical signif icance because it has been identified in 1.8% (67/3738) of African American chro mosomes from a broad population by the NHLBI Exome Sequencing Project (http://ev s.gs.washington.edu/EVS;).
Ambry Genetics RCV000254039 SCV000318585 benign Cardiovascular phenotype 2016-01-11 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 RCV000151230 SCV000515470 benign not specified 2016-11-21 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 RCV000770464 SCV000901907 benign Cardiomyopathy 2017-08-21 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812124 SCV001159389 benign not provided 2019-11-20 criteria provided, single submitter clinical testing

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