Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Leeds Amelogenesis Imperfecta Research Group, |
RCV000240712 | SCV000264801 | pathogenic | Heimler syndrome 2 | 2015-10-01 | criteria provided, single submitter | research | Newly identified |
Counsyl | RCV000675085 | SCV000800593 | uncertain significance | Peroxisome biogenesis disorder 4A (Zellweger); Peroxisome biogenesis disorder 4B | 2017-09-15 | criteria provided, single submitter | clinical testing |