Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000434353 | SCV000511601 | likely benign | not provided | 2017-01-24 | criteria provided, single submitter | clinical testing | Converted during submission to Likely benign. |
Invitae | RCV001085731 | SCV000655671 | benign | Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000434353 | SCV001828712 | benign | not provided | 2019-01-21 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000434353 | SCV002563201 | likely benign | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | KIAA0586: BP4, BS2 |