Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000501452 | SCV000595162 | uncertain significance | not specified | 2016-04-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001511369 | SCV001718602 | benign | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency; Lesch-Nyhan syndrome | 2024-01-16 | criteria provided, single submitter | clinical testing |