Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000539156 | SCV000659422 | benign | Adams-Oliver syndrome 5 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002313935 | SCV000739356 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2017-04-03 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Gene |
RCV001564352 | SCV001787508 | likely benign | not provided | 2019-07-02 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 24277457, 27611364) |
Genome- |
RCV000539156 | SCV002554502 | benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002269853 | SCV002554503 | benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
ITMI | RCV000121676 | SCV000085874 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |