Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
OMIM | RCV000019958 | SCV000040256 | pathogenic | APRT deficiency, Japanese type | 1996-11-01 | no assertion criteria provided | literature only | |
Gene |
RCV000033908 | SCV000057822 | not provided | Adenine phosphoribosyltransferase deficiency | no assertion provided | literature only | ||
APRT Deficiency Research Program of the Rare Kidney Stone Consortium, |
RCV000033908 | SCV001449099 | pathogenic | Adenine phosphoribosyltransferase deficiency | 2020-09-01 | no assertion criteria provided | literature only |