ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.3118C>T (p.Arg1040Trp)

gnomAD frequency: 0.00004  dbSNP: rs762486621
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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 RCV000799347 SCV000939006 benign Qualitative or quantitative defects of dysferlin 2024-05-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487681 SCV002793904 uncertain significance Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset 2022-04-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830718 SCV002082256 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-01-17 no assertion criteria provided clinical testing

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