Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biochemical Molecular Genetic Laboratory, |
RCV000723328 | SCV000854722 | likely pathogenic | Coffin-Siris syndrome 1 | 2018-07-09 | no assertion criteria provided | clinical testing |