Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Medical Genetics, |
RCV001730037 | SCV001976793 | pathogenic | McLeod neuroacanthocytosis syndrome | 2021-08-10 | criteria provided, single submitter | clinical testing | PVS1, PM2, PP3 |
Ce |
RCV003326586 | SCV004032931 | likely pathogenic | not provided | 2023-07-01 | criteria provided, single submitter | clinical testing | XK: PVS1:Strong, PM2, PS3:Supporting |