ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.3224G>A (p.Arg1075Gln) (rs749040743)

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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 RCV000498485 SCV000590875 likely 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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