ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.15015G>A (p.Thr5005=) (rs2229149)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000241903 SCV000304855 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000308165 SCV000413048 likely benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000362889 SCV000413049 likely benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000277489 SCV000413050 likely benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000332546 SCV000413051 likely benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000721410 SCV000777644 benign not provided 2018-10-24 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000721410 SCV000852472 likely benign not provided 2016-08-27 criteria provided, single submitter clinical testing

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