Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000526654 | SCV000655657 | benign | Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001548520 | SCV001768447 | likely benign | not provided | 2022-12-28 | criteria provided, single submitter | clinical testing | See Variant Classification Assertion Criteria. |
Ce |
RCV001548520 | SCV004701830 | benign | not provided | 2023-12-01 | criteria provided, single submitter | clinical testing | KIAA0586: BP4, BS1, BS2 |