ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.8827G>A (p.Asp2943Asn) (rs79294840)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079182 SCV000111051 benign not specified 2013-07-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000079182 SCV000305060 benign not specified 2018-04-02 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000288413 SCV000412604 likely benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000345697 SCV000412605 likely benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000405982 SCV000412606 likely benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000310650 SCV000412607 likely benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000555564 SCV000660073 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
GeneDx RCV000079182 SCV000726242 likely benign not specified 2018-01-04 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.

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