ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.10188C>T (p.Asp3396=) (rs2229145)

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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 RCV000079115 SCV000110984 benign not specified 2013-11-12 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000079115 SCV000194775 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000079115 SCV000269766 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Asp3396Asp in exon 67 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 4.9% (424/8600) o f European American chromosomes from a broad population by the NHLBI Exome Seque ncing Project (http://evs.gs.washington.edu/EVS; dbSNP rs2229145).
PreventionGenetics,PreventionGenetics RCV000079115 SCV000304749 benign not specified 2018-03-29 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000407627 SCV000412712 benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000305382 SCV000412713 benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000360207 SCV000412714 benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000265559 SCV000412715 benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000079115 SCV000524997 benign not specified 2016-03-29 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.
Leiden Muscular Dystrophy (RYR1) RCV000119404 SCV000154311 not provided not provided no assertion provided not provided

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