Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Al Jalila Children's Genomics Center, |
RCV001733601 | SCV001984274 | likely benign | Congenital bile acid synthesis defect 6 | 2020-03-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002543918 | SCV003483668 | likely benign | not provided | 2023-08-24 | criteria provided, single submitter | clinical testing |