Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Pharmacology and Genetics Laboratory, |
RCV000677186 | SCV000803302 | uncertain significance | Orofacial cleft 10; Selective tooth agenesis | no assertion criteria provided | case-control | In silico analysis revealed polyphen prediction possibly damage with polyphen score 0.949. Provean protein Batch - SIFT was predicted as tolerated with score 0.43. Mutation tester predicted disease causing. This rare variation was found just in a patient witn cleft with dental agenesis and was not found in Brazillian control population without craniofacial anomalies. |