ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.10218C>T (p.Tyr3406=) (rs41274330)

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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 RCV000079116 SCV000110985 benign not specified 2014-07-14 criteria provided, single submitter clinical testing
GeneDx RCV000079116 SCV000519806 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.
Genetic Services Laboratory, University of Chicago RCV000079116 SCV000194777 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000301982 SCV000412716 benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000356845 SCV000412717 benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000262204 SCV000412718 benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000317374 SCV000412719 benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000079116 SCV000269767 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Tyr3406Tyr 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 4.6% (393/8598) o f European American chromosomes from a broad population by the NHLBI Exome Seque ncing Project (http://evs.gs.washington.edu/EVS; dbSNP rs41274330).
Leiden Muscular Dystrophy (RYR1) RCV000119405 SCV000154312 not provided not provided no assertion provided not provided
PreventionGenetics RCV000079116 SCV000304750 benign not specified 2018-03-20 criteria provided, single submitter clinical testing

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