ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.9353C>T (p.Ala3118Val) (rs2915960)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000387418 SCV000412640 likely benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000295514 SCV000412641 likely benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000352587 SCV000412642 likely benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000372340 SCV000412643 likely benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000721736 SCV000660087 likely benign not provided 2019-02-07 criteria provided, single submitter clinical testing
GeneDx RCV000605463 SCV000731107 likely benign not specified 2017-04-19 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.
Ambry Genetics RCV000624697 SCV000741876 uncertain significance Inborn genetic diseases 2016-10-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected
PreventionGenetics,PreventionGenetics RCV000721736 SCV000852866 likely benign not provided 2016-06-24 criteria provided, single submitter clinical testing

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