Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000604563 | SCV000728492 | likely benign | not specified | 2017-01-24 | 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 | RCV000963954 | SCV001111132 | benign | not provided | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002495019 | SCV002800653 | likely benign | Alexander disease | 2022-03-21 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000963954 | SCV004140700 | likely benign | not provided | 2023-07-01 | criteria provided, single submitter | clinical testing | GFAP: BS1 |