ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.3750+20C>T

gnomAD frequency: 0.00005  dbSNP: rs577104822
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197959 SCV001368744 uncertain significance Autosomal dominant nonsyndromic hearing loss 11 2019-01-22 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,BP4.
Labcorp Genetics (formerly Invitae), Labcorp RCV002069288 SCV002372371 likely benign not provided 2025-01-24 criteria provided, single submitter clinical testing

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