ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.7614+10C>G

gnomAD frequency: 0.23284  dbSNP: rs2960323
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Total submissions: 17
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079167 SCV000111036 benign not specified 2014-06-06 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000079167 SCV000194860 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000079167 SCV000269783 benign not specified 2015-01-13 criteria provided, single submitter clinical testing c.7614+10C>G in intron 47 of RYR1: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus se quence. It has been identified in 33.2% (1463/4406) of African American chromoso mes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs .washington.edu/EVS; dbSNP rs2960323).
Preventiongenetics, part of Exact Sciences RCV000079167 SCV000305010 benign not specified 2018-04-03 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000293169 SCV000412455 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 Laboratory Services, Illumina RCV000350105 SCV000412456 benign Central core myopathy 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 Laboratory Services, Illumina RCV000374379 SCV000412457 benign Congenital multicore 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 Laboratory Services, Illumina RCV000282148 SCV000412458 benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000079167 SCV000514425 benign not specified 2016-01-22 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 RCV001514060 SCV001721809 benign RYR1-Related Disorders 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000350105 SCV002032912 benign Central core myopathy 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001795069 SCV002032913 benign King Denborough syndrome 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000374379 SCV002032914 benign Congenital multicore myopathy with external ophthalmoplegia 2021-11-07 criteria provided, single submitter clinical testing
Leiden Muscular Dystrophy (RYR1) RCV000119723 SCV000154630 not provided not provided no assertion provided not provided
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000119723 SCV001550167 uncertain significance not provided no assertion criteria provided clinical testing Allele frequency is common in at least one population database (frequency: 36.177% in ExAC) based on the frequency threshold of 2.223% for this gene. Variant was observed in a homozygous state in population databases more than expected for disease. 9 reputable source/s reports the variant as benign, but the evidence is not available to the laboratory to perform an independent evaluation.
Clinical Genetics, Academic Medical Center RCV000079167 SCV001917152 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000079167 SCV001954829 benign not specified no assertion criteria provided clinical testing

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