ClinVar Miner

Submissions for variant NM_005379.4(MYO1A):c.522C>T (p.Leu174=)

gnomAD frequency: 0.00001  dbSNP: rs561295735
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Total submissions: 3
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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 RCV000151451 SCV000199482 likely benign not specified 2013-04-04 criteria provided, single submitter clinical testing The Leu174Leu variant in exon 07 of MYO1A: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located near a splice junction.
Illumina Laboratory Services, Illumina RCV000370998 SCV000380416 uncertain significance Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003952721 SCV004769805 likely benign MYO1A-related condition 2019-07-12 criteria provided, single submitter 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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