Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000866649 | SCV001007774 | likely benign | Adams-Oliver syndrome 5 | 2023-12-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001547628 | SCV001767381 | likely benign | not provided | 2021-06-25 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000866649 | SCV002554951 | likely benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002271091 | SCV002554952 | likely benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002453969 | SCV002737534 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2022-08-03 | 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. |
CHEO Genetics Diagnostic Laboratory, |
RCV002453969 | SCV003837920 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2021-12-30 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003908225 | SCV004719468 | likely benign | NOTCH1-related condition | 2019-07-30 | 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). |