Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001241208 | SCV001414212 | likely benign | not provided | 2023-12-05 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001241208 | SCV001767231 | uncertain significance | not provided | 2020-01-02 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 29266188) |