ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.3760G>A (p.Ala1254Thr)

gnomAD frequency: 0.00002  dbSNP: rs556134001
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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 RCV001344533 SCV001538593 likely benign Qualitative or quantitative defects of dysferlin 2023-11-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV001825905 SCV002082289 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-02-26 no assertion criteria provided clinical testing

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