ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.9690G>A (p.Leu3230=) (rs2304151)

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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 RCV000079186 SCV000111055 benign not specified 2013-07-31 criteria provided, single submitter clinical testing
GeneDx RCV000079186 SCV000519833 benign not specified 2016-01-29 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.
Genetic Services Laboratory, University of Chicago RCV000079186 SCV000194882 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000331165 SCV000412676 benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000367176 SCV000412677 benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000272601 SCV000412678 benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000327649 SCV000412679 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 RCV000079186 SCV000711709 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Leu3230Leu in exon 66 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 6.6% (571/8600) o f European American chromosomes from a broad population by the NHLBI Exome Seque ncing Project (http://evs.gs.washington.edu/EVS; dbSNP rs2304151).
Leiden Muscular Dystrophy (RYR1) RCV000119773 SCV000154680 not provided not provided no assertion provided not provided
PreventionGenetics RCV000079186 SCV000305081 benign not specified 2018-03-29 criteria provided, single submitter clinical testing

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