Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Leeds Amelogenesis Imperfecta Research Group, |
RCV000495945 | SCV000298219 | pathogenic | Amelogenesis imperfecta | 2016-08-01 | no assertion criteria provided | research | Predicted to remove two of the protein's transmembrane helices and two pH sensing histidine residues. |
OMIM | RCV000412608 | SCV000490247 | pathogenic | Amelogenesis imperfecta, hypomaturation type, IIa6 | 2016-11-21 | no assertion criteria provided | literature only |