ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.1611G>A (p.Leu537=) (rs78281932)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036707 SCV000060362 benign not specified 2011-12-15 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000036707 SCV000306043 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000250971 SCV000319005 benign Cardiovascular phenotype 2015-04-20 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001093910 SCV000356221 benign Catecholaminergic polymorphic ventricular tachycardia type 1 2018-01-12 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 RCV000317040 SCV000356222 benign Arrhythmogenic right ventricular dysplasia, familial, 2 2018-01-12 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.
Invitae RCV000278274 SCV000554620 benign Catecholaminergic polymorphic ventricular tachycardia 2019-12-31 criteria provided, single submitter clinical testing
Color RCV000030415 SCV000902703 benign Cardiomyopathy 2018-03-09 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000030415 SCV000053084 benign Cardiomyopathy 2013-09-13 no assertion criteria provided clinical testing

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