Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000432649 | SCV000535929 | likely benign | not provided | 2020-01-09 | criteria provided, single submitter | clinical testing | In silico analysis, which includes splice predictors and evolutionary conservation, supports a deleterious effect |
Invitae | RCV000432649 | SCV002387688 | benign | not provided | 2024-01-12 | criteria provided, single submitter | clinical testing |