ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.312C>G (p.Ala104=)

gnomAD frequency: 0.00001  dbSNP: rs750834799
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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 RCV000978325 SCV001126253 likely benign Qualitative or quantitative defects of dysferlin 2023-09-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003424513 SCV004154960 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing DYSF: BP4, BP7
Natera, Inc. RCV001836049 SCV002079745 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-10-12 no assertion criteria provided clinical testing

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