ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.2070C>T (p.Ile690=)

gnomAD frequency: 0.00002  dbSNP: rs746480529
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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
Eurofins Ntd Llc (ga) RCV000381106 SCV000343132 uncertain significance not provided 2016-06-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001081408 SCV001021673 likely benign Qualitative or quantitative defects of dysferlin 2024-03-13 criteria provided, single submitter clinical testing

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