Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000878463 | SCV001021375 | benign | Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000989233 | SCV001139468 | benign | Joubert syndrome 23 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001638015 | SCV001849423 | benign | not provided | 2019-05-17 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 26026149) |
Ce |
RCV001638015 | SCV004134160 | benign | not provided | 2023-01-01 | criteria provided, single submitter | clinical testing | KIAA0586: PP3, BS1, BS2 |