ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.10254C>T (p.Asn3418=) (rs138073811)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000030408 SCV000053077 likely benign Cardiomyopathy 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely benign.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036647 SCV000060302 benign not specified 2015-03-24 criteria provided, single submitter clinical testing p.Asn3418Asn in exon 71 of RYR2: This variant is not expected to have clinical s ignificance because it has been identified in 0.9% (104/11788) of South Asian ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs138073811).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000036647 SCV000232395 benign not specified 2015-01-17 criteria provided, single submitter clinical testing
Invitae RCV000225908 SCV000285685 benign Catecholaminergic polymorphic ventricular tachycardia 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000242203 SCV000318760 likely benign Cardiovascular phenotype 2016-05-31 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000030408 SCV000900157 benign Cardiomyopathy 2017-01-09 criteria provided, single submitter clinical testing
Color RCV000030408 SCV000902731 likely benign Cardiomyopathy 2018-03-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001097850 SCV001254169 likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV001097851 SCV001254170 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.

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