Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000226163 | SCV000290247 | benign | Adams-Oliver syndrome 5 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002310825 | SCV000319521 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2015-05-21 | 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. |
Gene |
RCV000421870 | SCV000529310 | benign | not specified | 2016-09-28 | 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. |
Genome- |
RCV000226163 | SCV002554978 | benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270034 | SCV002554979 | benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002500803 | SCV002805516 | benign | Aortic valve disease 1; Adams-Oliver syndrome 5 | 2022-04-05 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000421870 | SCV003933958 | benign | not specified | 2023-05-28 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV003736662 | SCV004562102 | benign | not provided | 2023-10-16 | criteria provided, single submitter | clinical testing |