Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Elsea Laboratory, |
RCV001250108 | SCV001424237 | likely pathogenic | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency; Lesch-Nyhan syndrome | 2020-04-01 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000010747 | SCV000030973 | pathogenic | Lesch-Nyhan syndrome | 1990-06-01 | no assertion criteria provided | literature only |