Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre of Medical Genetics, |
RCV000662263 | SCV000747187 | uncertain significance | Adams-Oliver syndrome 5 | 2017-12-01 | criteria provided, single submitter | research | |
Labcorp Genetics |
RCV000662263 | SCV001006331 | benign | Adams-Oliver syndrome 5 | 2024-01-03 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001335847 | SCV001529090 | uncertain significance | Aortic valve disease 1 | 2018-05-14 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Gene |
RCV001577624 | SCV001805034 | likely benign | not provided | 2020-09-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002362750 | SCV002666249 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2020-01-09 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
ARUP Laboratories, |
RCV001577624 | SCV004562915 | likely benign | not provided | 2023-06-01 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000121703 | SCV005422682 | likely benign | not specified | 2024-10-20 | criteria provided, single submitter | clinical testing | |
ITMI | RCV000121703 | SCV000085901 | not provided | not specified | 2013-09-19 | no assertion provided | reference population | |
Prevention |
RCV004530028 | SCV004733688 | benign | NOTCH1-related disorder | 2019-05-15 | no assertion criteria provided | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |