Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000925439 | SCV001070975 | likely benign | Cranioectodermal dysplasia 2; Short-rib thoracic dysplasia 7 with or without polydactyly | 2023-08-04 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002279645 | SCV002567187 | benign | Connective tissue disorder | 2019-04-01 | criteria provided, single submitter | clinical testing |