ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.14130-8C>G (rs140808099)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000180763 SCV000233251 benign not specified 2014-07-10 criteria provided, single submitter clinical testing
GeneDx RCV000180763 SCV000532936 likely benign not specified 2018-01-25 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 RCV000400439 SCV000413004 likely benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000308235 SCV000413005 likely benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000365160 SCV000413006 likely benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000272964 SCV000413007 likely benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000542341 SCV000659840 benign RYR1-Related Disorders 2017-12-05 criteria provided, single submitter clinical testing
PreventionGenetics RCV000180763 SCV000304837 benign not specified 2018-03-13 criteria provided, single submitter clinical testing

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