ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1241G>A (p.Cys414Tyr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002756801 SCV003028415 likely benign Qualitative or quantitative defects of dysferlin 2024-05-20 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003146627 SCV003831256 uncertain significance not provided 2021-11-25 criteria provided, single submitter clinical testing

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