ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.7872C>T (p.Arg2624=) (rs1469698)

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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 RCV000079173 SCV000111042 benign not specified 2014-06-06 criteria provided, single submitter clinical testing
GeneDx RCV000079173 SCV000514426 benign not specified 2016-01-06 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 RCV000079173 SCV000194865 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000404853 SCV000412503 benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000297506 SCV000412504 benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000357110 SCV000412505 benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000397230 SCV000412506 benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000079173 SCV000269786 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Arg2624Arg in exon 49 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 27.7% (1219/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequ encing Project (http://evs.gs.washington.edu/EVS; dbSNP rs1469698).
Leiden Muscular Dystrophy (RYR1) RCV000119733 SCV000154640 not provided not provided no assertion provided not provided
PreventionGenetics RCV000079173 SCV000305027 benign not specified 2018-04-03 criteria provided, single submitter clinical testing

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