Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000840234 | SCV000982156 | likely benign | not provided | 2018-04-06 | 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 | RCV001083492 | SCV001001663 | likely benign | Spastic paraplegia | 2024-01-15 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000840234 | SCV001476811 | likely benign | not provided | 2019-10-10 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001277262 | SCV001464174 | likely benign | Charlevoix-Saguenay spastic ataxia | 2020-05-02 | no assertion criteria provided | clinical testing |