Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000248511 | SCV000314411 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV000864460 | SCV001005264 | benign | Jeune thoracic dystrophy; Nephronophthisis | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001551087 | SCV001771516 | likely benign | not provided | 2021-04-08 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002494763 | SCV002795037 | likely benign | Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 | 2021-09-20 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000248511 | SCV003839184 | likely benign | not specified | 2022-08-26 | no assertion criteria provided | clinical testing |