ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.9262G>A (p.Val3088Met) (rs145044872)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182617 SCV000234981 likely benign not specified 2017-07-19 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.
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000203140 SCV000257716 uncertain significance Malignant hypothermia 2015-07-10 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000326085 SCV000412636 likely benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000383042 SCV000412637 likely benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000272384 SCV000412638 likely benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000329734 SCV000412639 likely benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000547903 SCV000660084 likely benign RYR1-Related Disorders 2018-01-12 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000721734 SCV000705502 uncertain significance not provided 2017-01-23 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000721734 SCV000852863 uncertain significance not provided 2017-01-29 criteria provided, single submitter clinical testing

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