Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000827355 | SCV000968998 | likely benign | not provided | 2018-05-17 | 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 | RCV001468754 | SCV001672814 | likely benign | Telangiectasia, hereditary hemorrhagic, type 5 | 2021-12-15 | criteria provided, single submitter | clinical testing |