Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000124424 | SCV000167857 | benign | not specified | 2013-09-13 | 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, |
RCV000659446 | SCV000781261 | uncertain significance | Ehlers-Danlos syndrome, classic type | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002055482 | SCV002404001 | benign | Ehlers-Danlos syndrome, classic type, 1 | 2024-01-01 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000124424 | SCV004803339 | benign | not specified | 2024-01-15 | criteria provided, single submitter | clinical testing |