ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1737G>A (p.Glu579=)

gnomAD frequency: 0.00005  dbSNP: rs370872013
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001079983 SCV000769846 likely benign Qualitative or quantitative defects of dysferlin 2024-11-27 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000735135 SCV000863335 uncertain significance not provided 2018-09-12 criteria provided, single submitter clinical testing

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