ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.7977G>A (p.Thr2659=) (rs2229144)

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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 RCV000079174 SCV000111043 benign not specified 2016-05-20 criteria provided, single submitter clinical testing
GeneDx RCV000079174 SCV000519601 benign not specified 2016-01-25 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.
Genetic Services Laboratory, University of Chicago RCV000079174 SCV000194866 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000307899 SCV000412527 benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000366261 SCV000412528 benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000271603 SCV000412529 benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000312792 SCV000412530 benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000079174 SCV000269787 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Thr2659Thr in exon 50 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 45.8% (2016/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequ encing Project (http://evs.gs.washington.edu/EVS; dbSNP rs2229144).
Leiden Muscular Dystrophy (RYR1) RCV000119736 SCV000154643 not provided not provided no assertion provided not provided
PreventionGenetics RCV000079174 SCV000305035 benign not specified 2018-04-03 criteria provided, single submitter clinical testing

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