ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.2673G>A (p.Gly891=)

dbSNP: rs530181166
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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 RCV001089370 SCV000649635 likely benign Qualitative or quantitative defects of dysferlin 2024-03-13 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000591270 SCV000707058 uncertain significance not provided 2017-03-21 criteria provided, single submitter clinical testing

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