ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.2472C>A (p.Tyr824Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005025766 SCV005659290 pathogenic Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset 2024-02-04 criteria provided, single submitter clinical testing
Neuropathology Laboratory of Hebei Province, The Second Hospital of Hebei Medical University RCV002287921 SCV002578235 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B no assertion criteria provided clinical testing

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