ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.13783-6A>G

gnomAD frequency: 0.66919  dbSNP: rs790901
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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 RCV000036684 SCV000060339 benign not specified 2011-09-16 criteria provided, single submitter clinical testing
GeneDx RCV000036684 SCV000171436 benign not specified 2011-07-07 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.
Eurofins Ntd Llc (ga) RCV000036684 SCV000233241 benign not specified 2014-09-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000036684 SCV000306035 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000340150 SCV000356477 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 RCV000391438 SCV000356478 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 RCV000775980 SCV000910501 benign Cardiomyopathy 2018-03-09 criteria provided, single submitter clinical testing
Invitae RCV000340150 SCV001728411 benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000391438 SCV002033048 benign Arrhythmogenic right ventricular dysplasia 2 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001841569 SCV002033049 benign Cardiac arrhythmia 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000340150 SCV002033050 benign Catecholaminergic polymorphic ventricular tachycardia 1 2021-11-07 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000036684 SCV001740692 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000036684 SCV001924084 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000036684 SCV001929044 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000036684 SCV001957994 benign not specified no assertion criteria provided clinical testing

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