ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.308A>G (p.Asn103Ser)

gnomAD frequency: 0.00012  dbSNP: rs201834175
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000647984 SCV000769794 likely benign Qualitative or quantitative defects of dysferlin 2024-12-18 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001253301 SCV001428951 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2016-11-29 criteria provided, single submitter clinical testing

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