Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV000508323 | SCV000604880 | benign | Bone fragility with contractures, arterial rupture, and deafness | 2023-09-25 | criteria provided, single submitter | clinical testing | |
Center for Pediatric Genomic Medicine, |
RCV000514263 | SCV000610861 | likely benign | not provided | 2017-09-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000514263 | SCV001096212 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000508323 | SCV002809561 | likely benign | Bone fragility with contractures, arterial rupture, and deafness | 2022-03-07 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000514263 | SCV004162771 | likely benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | PLOD3: BP4, BS2 |