ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.6178G>T (p.Gly2060Cys) (rs35364374)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079156 SCV000111025 benign not specified 2013-07-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000079156 SCV000194847 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000209979 SCV000265712 benign Malignant hyperthermia, susceptibility to, 1 2013-07-01 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000079156 SCV000269779 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Gly2060Cys in exon 38 of RYR1: This variant is not expected to have clinical s ignificance because it has been identified in 7.1% (613/8600) of European Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs35364374).
PreventionGenetics,PreventionGenetics RCV000079156 SCV000304972 benign not specified 2018-03-21 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000395150 SCV000412317 benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000299979 SCV000412318 benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000056058 SCV000412319 benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000259584 SCV000412320 benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000079156 SCV000519747 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.
GeneReviews RCV000056058 SCV000087119 non-pathogenic Myopathy, Central Core 2010-05-11 no assertion criteria provided curation Converted during submission to Benign.
Leiden Muscular Dystrophy (RYR1) RCV000119647 SCV000154554 not provided not provided no assertion provided not provided

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