ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.3480C>T (p.Ser1160=) (rs373345984)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037479 SCV000061137 benign not specified 2012-04-03 criteria provided, single submitter clinical testing Ser1160Ser in exon 26 of MYH6: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and it has been identified in 2.4% (82/3428) of African American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS/)
Invitae RCV000757525 SCV000287409 benign Familial hypertrophic cardiomyopathy 14 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000245834 SCV000318171 benign Cardiovascular phenotype 2014-12-18 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
GeneDx RCV000037479 SCV000515390 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000037479 SCV000885780 benign not specified 2019-03-13 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770441 SCV000901884 benign Cardiomyopathy 2017-08-21 criteria provided, single submitter clinical testing

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