ClinVar Miner

Submissions for variant NM_005379.4(MYO1A):c.2021G>A (p.Gly674Asp)

gnomAD frequency: 0.00050  dbSNP: rs148808080
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003390958 SCV004133501 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing MYO1A: BS2
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000211623 SCV000268686 likely benign Autosomal dominant nonsyndromic hearing loss 48 2016-05-10 no assertion criteria provided research
PreventionGenetics, part of Exact Sciences RCV003967568 SCV004782667 likely benign MYO1A-related disorder 2023-04-19 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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