ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.9318T>G (p.Ser3106=)

dbSNP: rs2797436
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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000036803 SCV000060458 benign not specified 2011-09-16 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000036803 SCV000231932 benign not specified 2014-09-15 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000036803 SCV000306080 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000244894 SCV000317627 benign Cardiovascular phenotype 2015-03-09 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Illumina Laboratory Services, Illumina RCV000371137 SCV000356377 benign Catecholaminergic polymorphic ventricular tachycardia 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 RCV000404089 SCV000356378 benign Arrhythmogenic right ventricular dysplasia 2 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.
Color Diagnostics, LLC DBA Color Health RCV000771032 SCV000902529 benign Cardiomyopathy 2018-03-15 criteria provided, single submitter clinical testing
Invitae RCV000371137 SCV001728408 benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001682729 SCV001904288 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000404089 SCV002033019 benign Arrhythmogenic right ventricular dysplasia 2 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001841578 SCV002033020 benign Cardiac arrhythmia 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000371137 SCV002033021 benign Catecholaminergic polymorphic ventricular tachycardia 1 2021-11-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496577 SCV002810156 likely benign Arrhythmogenic right ventricular dysplasia 2; Catecholaminergic polymorphic ventricular tachycardia 1; Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome 2021-08-11 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000036803 SCV001919333 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000036803 SCV001963536 benign not specified no assertion criteria provided clinical testing

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