Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002270518 | SCV000559873 | likely benign | Adams-Oliver syndrome 5 | 2023-10-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000469932 | SCV001814792 | likely benign | not provided | 2021-02-02 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001798848 | SCV002043501 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2020-01-27 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270518 | SCV002555084 | likely benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270517 | SCV002555085 | likely benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001798848 | SCV002753311 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2021-10-22 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |
Prevention |
RCV003960084 | SCV004770627 | likely benign | NOTCH1-related condition | 2021-10-27 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |