Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000667458 | SCV000791907 | pathogenic | Biotinidase deficiency | 2017-05-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003456422 | SCV004185041 | likely pathogenic | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | BTD: PVS1:Strong, PM2, PM3:Supporting |