Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000006362 | SCV004201685 | likely pathogenic | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | 2023-12-22 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000006362 | SCV000026544 | pathogenic | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | 2001-09-11 | no assertion criteria provided | literature only | |
Gene |
RCV000006362 | SCV000054635 | not provided | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | no assertion provided | literature only |