ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.4401T>G (p.Ser1467=) (rs150081280)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000037506 SCV000052974 benign not specified 2019-12-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037506 SCV000061164 likely benign not specified 2015-10-30 criteria provided, single submitter clinical testing p.Ser1467Ser in exon 31 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 0.8% (79/10234) of A frican chromosomes, including 1 homozygote by the Exome Aggregation Consortium ( ExAC, http://exac.broadinstitute.org; dbSNP rs150081280).
Ambry Genetics RCV000249957 SCV000319589 likely benign Cardiovascular phenotype 2015-04-08 criteria provided, single submitter clinical testing
GeneDx RCV000037506 SCV000531898 likely benign not specified 2017-09-11 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 RCV000475333 SCV000557890 likely benign Familial hypertrophic cardiomyopathy 14 2019-12-31 criteria provided, single submitter clinical testing

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