ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.4999C>T (p.Arg1667Cys) (rs144157950)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Human Development Section,National Institutes of Health RCV000210024 SCV000265705 likely benign Malignant hyperthermia, susceptibility to, 1 2013-07-01 criteria provided, single submitter research
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000238630 SCV000296943 uncertain significance Malignant hypothermia 2015-11-20 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000388667 SCV000331847 likely benign not specified 2015-07-17 criteria provided, single submitter clinical testing
GeneDx RCV000388667 SCV000527243 likely benign not specified 2017-12-20 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.
Illumina Clinical Services Laboratory,Illumina RCV000275346 SCV000412217 likely benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000332661 SCV000412218 likely benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000371001 SCV000412219 likely benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000269290 SCV000412220 likely benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000531155 SCV000659951 benign RYR1-Related Disorders 2017-12-26 criteria provided, single submitter clinical testing
PreventionGenetics RCV000721572 SCV000852663 likely benign not provided 2017-10-16 criteria provided, single submitter clinical testing

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