Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000226548 | SCV000290250 | benign | Adams-Oliver syndrome 5 | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001722261 | SCV000716454 | likely benign | not provided | 2020-12-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002313947 | SCV000738450 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2016-02-10 | 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. |
Genome- |
RCV000226548 | SCV002554945 | benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270037 | SCV002554946 | benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003323469 | SCV004029547 | benign | not specified | 2023-07-21 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV002313947 | SCV004239528 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2022-11-17 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003907890 | SCV004722315 | benign | NOTCH1-related condition | 2019-08-06 | criteria provided, single submitter | 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). |