ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.7923C>G (p.Leu2641=) (rs142558977)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000721683 SCV000230813 uncertain significance not provided 2014-12-03 criteria provided, single submitter clinical testing
GeneDx RCV000245786 SCV000524478 likely benign not specified 2018-03-08 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 RCV000335516 SCV000412519 likely benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000408287 SCV000412520 likely benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000282044 SCV000412521 likely benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000337138 SCV000412522 likely benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000552787 SCV000660050 benign RYR1-Related Disorders 2017-12-26 criteria provided, single submitter clinical testing
PreventionGenetics RCV000245786 SCV000305030 likely benign not specified criteria provided, single submitter clinical testing
PreventionGenetics RCV000721683 SCV000852810 likely benign not provided 2017-02-13 criteria provided, single submitter clinical testing

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