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 Central core myopathy 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 RYR1-Related Disorders 2020-10-09 criteria provided, single submitter clinical testing
GeneDx RCV001719825 SCV000726242 benign not provided 2021-03-02 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 32019516, 30325262)

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