Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000475102 | SCV000562716 | benign | Intellectual disability, autosomal dominant 5 | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Center for Human Genetics, |
RCV000475102 | SCV000782330 | likely benign | Intellectual disability, autosomal dominant 5 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001706644 | SCV001839109 | benign | not provided | 2020-05-10 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001706644 | SCV004700802 | likely benign | not provided | 2023-12-01 | criteria provided, single submitter | clinical testing | SYNGAP1: BP4, BS1 |