ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.7260C>T (p.His2420=) (rs12973632)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000147438 SCV000203456 benign not specified 2014-02-17 criteria provided, single submitter clinical testing
GeneDx RCV000147438 SCV000515934 benign not specified 2015-06-22 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 RCV000147438 SCV000194853 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000287054 SCV000412415 benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000339275 SCV000412416 benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000403377 SCV000412417 benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000290153 SCV000412418 benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000527440 SCV000660022 benign RYR1-Related Disorders 2017-08-22 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000147438 SCV000269780 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.His2420His in exon 45 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 3.3% (287/8600) o f European American chromosomes from a broad population by the NHLBI Exome Seque ncing Project (http://evs.gs.washington.edu/EVS; dbSNP rs12973632).
Leiden Muscular Dystrophy (RYR1) RCV000119692 SCV000154599 not provided not provided no assertion provided not provided
PreventionGenetics RCV000147438 SCV000305001 benign not specified 2018-04-10 criteria provided, single submitter clinical testing

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