ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.7527G>A (p.Val2509=) (rs2071088)

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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 RCV000079166 SCV000111035 benign not specified 2014-07-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000079166 SCV000194858 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000079166 SCV000269782 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Val2509Val 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 9.2% (406/4406) o f African American chromosomes from a broad population by the NHLBI Exome Sequen cing Project (http://evs.gs.washington.edu/EVS; dbSNP rs2071088).
PreventionGenetics,PreventionGenetics RCV000079166 SCV000305007 benign not specified 2018-04-02 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000397086 SCV000412443 benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000298144 SCV000412444 benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000359902 SCV000412445 benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000267498 SCV000412446 benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000079166 SCV000519803 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.
Leiden Muscular Dystrophy (RYR1) RCV000119720 SCV000154627 not provided not provided no assertion provided not provided

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