ClinVar Miner

Submissions for variant NM_005379.4(MYO1A):c.1985G>A (p.Gly662Glu)

gnomAD frequency: 0.02416  dbSNP: rs33962952
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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 RCV000038471 SCV000062149 benign not specified 2013-01-09 criteria provided, single submitter clinical testing This variant has been identified in 3.8% (324/8600) of European American chromos omes from a broad population by the NHLBI Exome Sequencing Project (http://evs.g s.washington.edu/EVS/; dbSNP rs33962952)
PreventionGenetics, part of Exact Sciences RCV000038471 SCV000311036 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000038471 SCV000717122 benign not specified 2017-11-10 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.
OMIM RCV000008627 SCV000028835 uncertain significance Autosomal dominant nonsyndromic hearing loss 48 2014-05-01 no assertion criteria provided literature only

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