Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000124397 | SCV000167830 | benign | not specified | 2014-02-19 | 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. |
Center for Human Genetics, |
RCV000659415 | SCV000781228 | uncertain significance | Ehlers-Danlos syndrome, type 4 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000776297 | SCV000911598 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2018-04-20 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001812004 | SCV002049722 | likely benign | not provided | 2021-10-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000659415 | SCV002361798 | benign | Ehlers-Danlos syndrome, type 4 | 2023-12-27 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV000659415 | SCV004821022 | benign | Ehlers-Danlos syndrome, type 4 | 2024-02-05 | criteria provided, single submitter | clinical testing |