ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5206C>T (p.Arg1736Cys)

gnomAD frequency: 0.00003  dbSNP: rs758206608
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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 RCV001035975 SCV001199315 likely benign Qualitative or quantitative defects of dysferlin 2024-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001827215 SCV002080308 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2021-02-04 no assertion criteria provided clinical testing

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