Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
OMIM | RCV000033907 | SCV000040255 | pathogenic | Adenine phosphoribosyltransferase deficiency | 1997-01-01 | no assertion criteria provided | literature only | |
APRT Deficiency Research Program of the Rare Kidney Stone Consortium, |
RCV000033907 | SCV001449087 | pathogenic | Adenine phosphoribosyltransferase deficiency | 2020-09-01 | no assertion criteria provided | literature only |