ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.1675dup (p.Ile559fs)

dbSNP: rs1475149579
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pediatric Department, Peking University First Hospital RCV001796365 SCV001245545 pathogenic Congenital myopathy with fiber type disproportion 2020-04-11 criteria provided, single submitter provider interpretation

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