Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000327769 | SCV000469868 | likely benign | Supravalvar aortic stenosis | 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 Laboratory Services, |
RCV000382394 | SCV000469869 | benign | Cutis laxa, autosomal dominant 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. |
Gene |
RCV000492857 | SCV000582136 | uncertain significance | not provided | 2021-08-18 | criteria provided, single submitter | clinical testing | Reported in a male with sudden infant death syndrome at 3 months of age (Neubauer et al., 2017); however, additional variants were also identified, and family studies were not described; Identified independently and in conjunction with additional variants in individuals referred for connective tissue disorder genetic testing at GeneDx; segregation data are limited at this time; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 28074886) |
Invitae | RCV000327769 | SCV001004049 | likely benign | Supravalvar aortic stenosis | 2024-01-09 | criteria provided, single submitter | clinical testing | |
Clinical Molecular Genetics Laboratory, |
RCV000984480 | SCV001021977 | uncertain significance | Familial atrioventricular septal defect | 2019-12-09 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000492857 | SCV001501395 | likely benign | not provided | 2022-07-01 | criteria provided, single submitter | clinical testing | ELN: BP4, BS1 |