ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.12879G>C (p.Ala4293=) (rs193922854)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CSER_CC_NCGL; University of Washington Medical Center RCV000210907 SCV000264612 uncertain significance Malignant hyperthermia 2016-01-01 criteria provided, single submitter research
CeGaT Praxis fuer Humangenetik Tuebingen RCV000079126 SCV000575183 uncertain significance not provided 2017-02-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079126 SCV000110995 uncertain significance not provided 2016-05-11 criteria provided, single submitter clinical testing
GeneDx RCV000252273 SCV000523344 benign not specified 2017-12-12 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.
Genetic Services Laboratory, University of Chicago RCV000252273 SCV000194798 likely benign not specified 2016-03-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000354942 SCV000412903 likely benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000260031 SCV000412904 likely benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000319905 SCV000412905 likely benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000355907 SCV000412906 likely benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000528135 SCV000659799 likely benign RYR1-Related Disorders 2018-01-19 criteria provided, single submitter clinical testing
Knight Diagnostic Laboratories,Oregon Health and Sciences University RCV000415696 SCV000493796 uncertain significance Malignant hyperthermia, susceptibility to, 1 2015-09-26 criteria provided, single submitter clinical testing
Leiden Muscular Dystrophy (RYR1) RCV000079126 SCV000154375 not provided not provided no assertion provided not provided
PreventionGenetics RCV000252273 SCV000304814 benign not specified 2017-08-02 criteria provided, single submitter clinical testing

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