ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.2121C>A (p.Gly707=) (rs146104858)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000252771 SCV000614905 likely benign not specified 2017-04-21 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000119590 SCV000575161 uncertain significance not provided 2017-05-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000119590 SCV000226736 uncertain significance not provided 2015-06-03 criteria provided, single submitter clinical testing
GeneDx RCV000252771 SCV000523572 likely benign not specified 2018-02-05 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 RCV000288116 SCV000411914 likely benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000345447 SCV000411915 likely benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000383723 SCV000411916 likely benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000291947 SCV000411917 likely benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000539709 SCV000659880 benign RYR1-Related Disorders 2018-01-09 criteria provided, single submitter clinical testing
Leiden Muscular Dystrophy (RYR1) RCV000119590 SCV000154497 not provided not provided no assertion provided not provided
PreventionGenetics RCV000252771 SCV000304874 benign not specified 2016-08-02 criteria provided, single submitter clinical testing

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