Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
OMIM | RCV000010781 | SCV000031008 | pathogenic | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency | 1991-10-01 | no assertion criteria provided | literature only | |
OMIM | RCV000010782 | SCV000031009 | other | HPRT SWAN | 2011-05-12 | no assertion criteria provided | literature only |