ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.3567C>T (p.Pro1189=) (rs200161205)

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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 RCV000247132 SCV000304913 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000293157 SCV000412063 likely benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000349555 SCV000412064 likely benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000399531 SCV000412065 likely benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000309766 SCV000412066 likely benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000655628 SCV000777559 likely benign RYR1-Related Disorders 2017-12-15 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000721503 SCV000852581 likely benign not provided 2013-10-21 criteria provided, single submitter clinical testing

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