ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1668C>A (p.Pro556=)

gnomAD frequency: 0.00003  dbSNP: rs180970066
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000337954 SCV000344783 uncertain significance not provided 2016-09-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001078664 SCV001087350 likely benign Qualitative or quantitative defects of dysferlin 2024-08-05 criteria provided, single submitter clinical testing

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