ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.10578G>A (p.Ala3526=) (rs368360689)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000248525 SCV000723906 likely benign not specified 2017-10-23 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.
Illumina Clinical Services Laboratory,Illumina RCV000287336 SCV000412744 likely benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000323697 SCV000412745 likely benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000378251 SCV000412746 likely benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000283830 SCV000412747 likely benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000524807 SCV000659753 benign RYR1-Related Disorders 2017-05-22 criteria provided, single submitter clinical testing
PreventionGenetics RCV000248525 SCV000304756 likely benign not specified criteria provided, single submitter clinical testing
PreventionGenetics RCV000721204 SCV000852214 likely benign not provided 2018-02-28 criteria provided, single submitter clinical testing

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