ClinVar Miner

Submissions for variant NM_005379.4(MYO1A):c.2141G>A (p.Arg714His)

gnomAD frequency: 0.00002  dbSNP: rs369452147
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Total submissions: 2
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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 RCV000219260 SCV000270522 likely benign not specified 2015-02-04 criteria provided, single submitter clinical testing p.Arg714His in exon 20 of MYO1A: This variant is not expected to have clinical s ignificance for hearing loss due to recent evidence disqualifying an association between variants in this gene and hearing loss (Eisenberger 2014). This variant has been identified in 5/67702 of European chromosomes and 4/16628 South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitu te.org; dbSNP rs369452147)
Revvity Omics, Revvity RCV003488471 SCV004236750 uncertain significance not provided 2021-10-27 criteria provided, single submitter clinical testing

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