Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Precision Medicine Laboratory, |
RCV000844891 | SCV000965588 | likely pathogenic | Congenital diarrhea 7 with exudative enteropathy | 2019-08-13 | no assertion criteria provided | clinical testing | This variant is unique but found in trans with another likely pathogenic variant in a clinically affected individual. In silico modelling implicates functional change. |