Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000301665 | SCV000409530 | uncertain significance | Pitt-Hopkins syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000301665 | SCV002435093 | likely benign | Pitt-Hopkins syndrome | 2023-10-06 | criteria provided, single submitter | clinical testing |