Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000842508 | SCV000984531 | likely benign | not provided | 2018-05-01 | 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. |
Invitae | RCV001406391 | SCV001608343 | likely benign | Ehlers-Danlos syndrome, type 4 | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002409005 | SCV002710921 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2019-05-19 | 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. |
Color Diagnostics, |
RCV002409005 | SCV004362976 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2022-11-06 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV001406391 | SCV004827570 | likely benign | Ehlers-Danlos syndrome, type 4 | 2023-06-08 | criteria provided, single submitter | clinical testing |