Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000441342 | SCV000527975 | benign | not specified | 2016-11-21 | 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 | RCV003761997 | SCV001094947 | benign | not provided | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002279192 | SCV002565273 | benign | Ehlers-Danlos syndrome | 2021-10-21 | criteria provided, single submitter | clinical testing |