ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.4911C>T (p.Ala1637=) (rs151113658)

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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,Partners HealthCare Personalized Medicine RCV000035939 SCV000059590 likely benign not specified 2012-03-20 criteria provided, single submitter clinical testing Ala1637Ala in exon 34 of MYH7: 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 1/3738 African Amer ican chromosomes from a broad population by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS/; dbSNP rs151113658). Ala1637Ala in exon 34 of MYH7 (rs151113658; allele frequency = 1/3738) **
GeneDx RCV000035939 SCV000513810 benign not specified 2015-04-16 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000035939 SCV000696355 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing
Invitae RCV000864511 SCV001005321 likely benign Hypertrophic cardiomyopathy 2020-02-21 criteria provided, single submitter clinical testing
Color Health, Inc RCV001189929 SCV001357324 likely benign Cardiomyopathy 2019-03-19 criteria provided, single submitter clinical testing

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