ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.14589C>T (p.Phe4863=) (rs146072491)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000147414 SCV000614902 benign not specified 2016-09-27 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000147414 SCV000225115 likely benign not specified 2014-11-15 criteria provided, single submitter clinical testing
GeneDx RCV000147414 SCV000528803 benign not specified 2016-08-17 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 RCV000147414 SCV000194809 likely benign not specified no assertion criteria provided clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000298868 SCV000413028 likely benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000355981 SCV000413029 likely benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000263490 SCV000413030 likely benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000330379 SCV000413031 likely benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000551499 SCV000659855 benign RYR1-Related Disorders 2018-01-01 criteria provided, single submitter clinical testing
PreventionGenetics RCV000147414 SCV000304850 benign not specified 2018-01-16 criteria provided, single submitter clinical testing

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