Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000471034 | SCV000559870 | benign | Adams-Oliver syndrome 5 | 2024-01-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001696885 | SCV000719695 | likely benign | not provided | 2020-07-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000769597 | SCV000739377 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2016-01-12 | 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. |
CHEO Genetics Diagnostic Laboratory, |
RCV000769597 | SCV000900994 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2017-05-24 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000471034 | SCV002554989 | benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270515 | SCV002554990 | benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002489122 | SCV002803270 | likely benign | Aortic valve disease 1; Adams-Oliver syndrome 5 | 2021-10-12 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004535470 | SCV004711163 | benign | NOTCH1-related disorder | 2022-09-15 | 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). |