ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.4986G>A (p.Ala1662=) (rs77416370)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000250876 SCV000318232 benign Cardiovascular phenotype 2017-02-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770428 SCV000901871 benign Cardiomyopathy 2016-08-30 criteria provided, single submitter clinical testing
GeneDx RCV000037525 SCV000534665 likely benign not specified 2016-12-09 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.
Invitae RCV000460813 SCV000557885 benign Familial hypertrophic cardiomyopathy 14 2017-05-23 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037525 SCV000061183 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Ala1662Ala in exon 34 of MYH6: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 2/7020 European Ame rican chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs77416370). Ala1662Ala in exon 34 of MYH6 (rs77416370; allele frequency = 2/7020) **
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000037525 SCV000740603 benign not specified 2016-06-07 criteria provided, single submitter clinical testing

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