ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.14505G>A (p.Gly4835=) (rs118126378)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000721374 SCV000892256 likely benign not provided 2018-09-30 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079132 SCV000111001 likely benign not specified 2015-05-19 criteria provided, single submitter clinical testing
GeneDx RCV000079132 SCV000522875 likely benign not specified 2018-01-03 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 RCV000079132 SCV000248764 uncertain significance not specified 2015-07-17 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000390273 SCV000413024 likely benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000304667 SCV000413025 likely benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000361747 SCV000413026 likely benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000259804 SCV000413027 likely benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000534133 SCV000659851 benign RYR1-Related Disorders 2018-01-12 criteria provided, single submitter clinical testing
PreventionGenetics RCV000079132 SCV000304848 likely benign not specified criteria provided, single submitter clinical testing
PreventionGenetics RCV000721374 SCV000852419 likely benign not provided 2017-10-20 criteria provided, single submitter clinical testing

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