Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
OMIM | RCV000010716 | SCV000030942 | pathogenic | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency | 1989-07-01 | no assertion criteria provided | literature only | |
OMIM | RCV000010717 | SCV000030943 | other | HPRT ASHVILLE | 2020-09-10 | no assertion criteria provided | literature only |