ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.3420C>G (p.Arg1140=) (rs201599911)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000281594 SCV000412043 likely benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000334540 SCV000412044 likely benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000401348 SCV000412045 likely benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000313376 SCV000412046 likely benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000439132 SCV000522880 likely benign not specified 2016-01-28 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.
Invitae RCV000721494 SCV000777564 likely benign not provided 2019-01-03 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000721494 SCV000852570 likely benign not provided 2018-03-29 criteria provided, single submitter clinical testing

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