ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.2797G>A (p.Ala933Thr) (rs148623597)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000398721 SCV000411962 likely benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000490015 SCV000577351 likely benign not specified 2018-03-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000721476 SCV000777608 likely benign not provided 2019-02-11 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000721476 SCV000852547 uncertain significance not provided 2018-08-02 criteria provided, single submitter clinical testing
Mendelics RCV000990197 SCV001141056 benign Malignant hyperthermia, susceptibility to, 1 2019-05-28 criteria provided, single submitter clinical testing
CSER _CC_NCGL, University of Washington RCV000148792 SCV000190530 likely benign Malignant hyperthermia and exertional rhabdomyolosis 2014-06-01 no assertion criteria provided research

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