ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5107G>A (p.Val1703Ile)

gnomAD frequency: 0.00001  dbSNP: rs747210644
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001507567 SCV001713189 uncertain significance not provided 2019-12-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001859342 SCV002137717 likely benign Qualitative or quantitative defects of dysferlin 2024-08-31 criteria provided, single submitter clinical testing

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