ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.4071C>T (p.Pro1357=) (rs375709463)

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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 RCV000254426 SCV000111012 benign not specified 2016-12-22 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000254426 SCV000304923 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000273111 SCV000412097 likely benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000325857 SCV000412098 likely benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000382820 SCV000412099 likely benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000285822 SCV000412100 likely benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000721518 SCV000659931 likely benign not provided 2019-03-04 criteria provided, single submitter clinical testing
GeneDx RCV000254426 SCV000726241 likely benign not specified 2018-01-04 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.
PreventionGenetics,PreventionGenetics RCV000721518 SCV000852598 likely benign not provided 2018-04-02 criteria provided, single submitter clinical testing

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