Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001570229 | SCV001794484 | likely benign | not provided | 2021-02-10 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001799104 | SCV002043537 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2020-03-18 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002271267 | SCV002554265 | likely benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002271266 | SCV002554266 | likely benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001799104 | SCV002650644 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2022-07-06 | 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. |
Fulgent Genetics, |
RCV002501918 | SCV002804733 | likely benign | Aortic valve disease 1; Adams-Oliver syndrome 5 | 2021-11-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002271267 | SCV003476267 | benign | Adams-Oliver syndrome 5 | 2023-10-22 | criteria provided, single submitter | clinical testing |