ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.7098C>T (p.Pro2366=) (rs2229147)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079162 SCV000111031 benign not specified 2013-05-07 criteria provided, single submitter clinical testing
GeneDx RCV000079162 SCV000518381 benign not specified 2015-09-28 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 RCV000079162 SCV000194851 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000273264 SCV000412403 benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000307181 SCV000412404 benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000364149 SCV000412405 benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000276659 SCV000412406 benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000079162 SCV000711708 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Pro2366Pro in exon 44 of RYR1: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 16.5% (728/4402) of African American chromosomes from a broad population by the NHLBI Exome Seque ncing Project (http://evs.gs.washington.edu/EVS; dbSNP rs2229147).
Leiden Muscular Dystrophy (RYR1) RCV000119687 SCV000154594 not provided not provided no assertion provided not provided
PreventionGenetics RCV000079162 SCV000304995 benign not specified 2018-04-02 criteria provided, single submitter clinical testing

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