ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1205G>A (p.Arg402Gln)

gnomAD frequency: 0.00001  dbSNP: rs375071568
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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 RCV001948729 SCV002212610 likely benign Qualitative or quantitative defects of dysferlin 2025-01-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002492023 SCV002785118 uncertain significance Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset 2021-07-25 criteria provided, single submitter clinical testing

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