Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000039082 | SCV000051546 | benign | not specified | 2013-06-24 | criteria provided, single submitter | research | |
Laboratory for Molecular Medicine, |
RCV000039082 | SCV000062760 | benign | not specified | 2011-09-16 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000039082 | SCV000313870 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Ambry Genetics | RCV000253234 | SCV000317566 | benign | Cardiovascular phenotype | 2015-07-27 | criteria provided, single submitter | clinical testing | |
EGL Genetic Diagnostics, |
RCV000039082 | SCV000341089 | benign | not specified | 2016-04-29 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000372432 | SCV000402756 | likely benign | Naxos disease | 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. |
Illumina Clinical Services Laboratory, |
RCV000578075 | SCV000402757 | benign | Arrhythmogenic right ventricular cardiomyopathy, type 12 | 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. |
Phosphorus, |
RCV000578075 | SCV000679868 | likely benign | Arrhythmogenic right ventricular cardiomyopathy, type 12 | 2017-08-01 | criteria provided, single submitter | clinical testing | |
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV000039082 | SCV000740578 | benign | not specified | 2016-05-17 | criteria provided, single submitter | clinical testing |