ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5275C>T (p.Arg1759Cys)

gnomAD frequency: 0.00004  dbSNP: rs757240900
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000796972 SCV000936508 likely benign Qualitative or quantitative defects of dysferlin 2023-12-11 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003489878 SCV004234437 uncertain significance not provided 2023-06-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830714 SCV002080313 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-12-28 no assertion criteria provided clinical testing

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