Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Al Jalila Children’s Genomics Center, |
RCV001267844 | SCV001446330 | pathogenic | Kleefstra syndrome 1 | 2020-10-04 | criteria provided, single submitter | clinical testing |