ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.351A>G (p.Thr117=) (rs117812913)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039431 SCV000063115 benign not specified 2012-05-23 criteria provided, single submitter clinical testing Thr117Thr in Exon 03 of DSC2: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located within the splice consensus sequence and has been identified in 1.2% (81/7016) of Europ ean American chromosomes from a broad population by the NHLBI Exome Sequencing P roject (http://evs.gs.washington.edu/EVS; dbSNP rs117812913).
Invitae RCV000231054 SCV000290738 benign Arrhythmogenic right ventricular cardiomyopathy, type 11 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000251164 SCV000317986 benign Cardiovascular phenotype 2015-05-18 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Illumina Clinical Services Laboratory,Illumina RCV000231054 SCV000408105 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 11 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000231054 SCV000743498 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 11 2014-10-10 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000231054 SCV000744770 benign Arrhythmogenic right ventricular cardiomyopathy, type 11 2015-09-21 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769501 SCV000900896 benign Cardiomyopathy 2016-03-18 criteria provided, single submitter clinical testing
Color RCV000769501 SCV000902652 benign Cardiomyopathy 2018-03-08 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000231054 SCV000733780 benign Arrhythmogenic right ventricular cardiomyopathy, type 11 no assertion criteria provided clinical testing

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