ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.7847del (p.Pro2616fs)

dbSNP: rs1970255367
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001262655 SCV001440601 uncertain significance Malignant hyperthermia, susceptibility to, 1 2019-01-01 criteria provided, single submitter clinical testing

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