Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000631414 | SCV000752487 | pathogenic | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency; Lesch-Nyhan syndrome | 2021-07-12 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000010746 | SCV000030972 | pathogenic | Lesch-Nyhan syndrome | 1990-06-01 | no assertion criteria provided | literature only |