ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.4294-4C>T (rs368108496)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000250307 SCV000304931 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000304590 SCV000412149 uncertain significance Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000336036 SCV000412150 uncertain significance Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000399614 SCV000412151 uncertain significance Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000301431 SCV000412152 uncertain significance Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000250307 SCV000525565 likely benign not specified 2016-03-21 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000513035 SCV000608896 uncertain significance not provided 2018-06-01 criteria provided, single submitter clinical testing
Invitae RCV000513035 SCV000777557 likely benign not provided 2019-01-14 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000513035 SCV000852616 likely benign not provided 2017-01-09 criteria provided, single submitter clinical testing

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