Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV000766257 | SCV000897675 | likely pathogenic | Congenital contractural arachnodactyly | 2018-11-20 | criteria provided, single submitter | research | Co-segregation with disease in 4 affected family members; Differential diagnosis for this patient is CCA |