ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.7500G>A (p.Ala2500=) (rs2228072)

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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 RCV000079165 SCV000111034 benign not specified 2014-07-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000079165 SCV000194857 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000079165 SCV000269781 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Ala2500Ala in exon 47 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 12.0% (527/4406) of African American chromosomes from a broad population by the NHLBI Exome Seque ncing Project (http://evs.gs.washington.edu/EVS; dbSNP rs2228072).
PreventionGenetics,PreventionGenetics RCV000079165 SCV000305005 benign not specified 2018-04-02 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000349039 SCV000412439 benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000403681 SCV000412440 benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000300125 SCV000412441 benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000357373 SCV000412442 benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000079165 SCV000519802 benign not specified 2016-02-08 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.

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