ClinVar Miner

Submissions for variant NM_005379.4(MYO1A):c.2919C>T (p.Ser973=)

gnomAD frequency: 0.01159  dbSNP: rs79857347
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Total submissions: 4
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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 RCV000151432 SCV000199459 benign not specified 2012-05-07 criteria provided, single submitter clinical testing "Ser973Ser in Exon 27 of MYO1A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 3.9% (147/3738) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs79857347)."
GeneDx RCV000836141 SCV000977971 benign not provided 2018-04-13 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000836141 SCV001103884 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000836141 SCV005233130 benign not provided criteria provided, single submitter not provided

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