Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000049551 | SCV004208962 | pathogenic | Ornithine aminotransferase deficiency | 2022-01-31 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000000185 | SCV000020328 | pathogenic | Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia | 1993-11-01 | no assertion criteria provided | literature only | |
Juha Muilu Group; Institute for Molecular Medicine Finland |
RCV000049551 | SCV000081988 | probable-pathogenic | Ornithine aminotransferase deficiency | no assertion criteria provided | not provided | Converted during submission to Likely pathogenic. |