Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000231737 | SCV000290292 | benign | Adams-Oliver syndrome 5 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000438044 | SCV000525682 | benign | not specified | 2016-12-06 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Ambry Genetics | RCV002313953 | SCV000738395 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2015-08-30 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Genome- |
RCV000231737 | SCV002554271 | benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270052 | SCV002554273 | benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002500805 | SCV002808380 | benign | Aortic valve disease 1; Adams-Oliver syndrome 5 | 2021-07-02 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000438044 | SCV004029578 | benign | not specified | 2023-07-21 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV003736664 | SCV004563032 | benign | not provided | 2023-11-06 | criteria provided, single submitter | clinical testing |