ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.10620C>G (p.Tyr3540Ter)

dbSNP: rs758247804
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva, University Hospital of Geneva RCV000499002 SCV000590876 pathogenic Arthrogryposis multiplex congenita 2017-05-16 criteria provided, single submitter clinical testing This RYR2 variant was found in compound heterozygosity with one another RYR2 variant in a fetus with polymalformative syndrome and arthrogryposis

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