ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.12741C>T (p.Ala4247=) (rs80039127)

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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 RCV000079124 SCV000110993 benign not specified 2013-03-12 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000079124 SCV000194797 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000079124 SCV000304812 benign not specified 2018-03-13 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000331674 SCV000412891 likely benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000386439 SCV000412892 likely benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000296824 SCV000412893 likely benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000351599 SCV000412894 likely benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000079124 SCV000527069 benign not specified 2016-07-20 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.
Invitae RCV000526266 SCV000659793 benign not provided 2019-02-28 criteria provided, single submitter clinical testing

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