ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.594A>G (p.Leu198=) (rs2229139)

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000079154 SCV000111023 benign not specified 2014-06-06 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000079154 SCV000194845 likely benign not specified 2013-08-15 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000079154 SCV000269777 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Leu198Leu in exon 7 of RYR1: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 47.6% (2096/4406) o f African American chromosomes from a broad population by the NHLBI Exome Sequen cing Project (http://evs.gs.washington.edu/EVS; dbSNP rs2229139).
PreventionGenetics,PreventionGenetics RCV000079154 SCV000304969 benign not specified 2018-04-03 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000277554 SCV000411842 benign Minicore myopathy with external ophthalmoplegia 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000313910 SCV000411843 benign Malignant hyperthermia, susceptibility to, 1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000354818 SCV000411844 benign Central core myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000259980 SCV000411845 benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000079154 SCV000519592 benign not specified 2016-01-25 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.
Invitae RCV001510122 SCV001717071 benign RYR1-Related Disorders 2020-12-04 criteria provided, single submitter clinical testing
Leiden Muscular Dystrophy (RYR1) RCV000119644 SCV000154551 not provided not provided no assertion provided not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000079154 SCV001741762 benign not specified no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000079154 SCV001922273 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000079154 SCV001955437 benign not specified no assertion criteria provided clinical testing

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