ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5362C>T (p.Arg1788Cys)

gnomAD frequency: 0.00016  dbSNP: rs545645581
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000711567 SCV000705880 uncertain significance not provided 2017-01-25 criteria provided, single submitter clinical testing
Counsyl RCV000665182 SCV000789255 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2017-01-19 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000711567 SCV000841946 uncertain significance not provided 2018-03-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002531059 SCV003264427 likely benign Qualitative or quantitative defects of dysferlin 2024-09-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV000665182 SCV002080318 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-02-11 no assertion criteria provided clinical testing

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