Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
APRT Deficiency Research Program of the Rare Kidney Stone Consortium, |
RCV000033903 | SCV001449074 | pathogenic | Adenine phosphoribosyltransferase deficiency | 2020-09-01 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000033903 | SCV000040257 | pathogenic | Adenine phosphoribosyltransferase deficiency | 2013-09-18 | no assertion criteria provided | literature only | |
Gene |
RCV000033903 | SCV000057817 | not provided | Adenine phosphoribosyltransferase deficiency | no assertion provided | literature only |