Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
OMIM | RCV000508613 | SCV000605832 | pathogenic | Schaaf-Yang syndrome | 2017-09-26 | no assertion criteria provided | literature only | |
Biochemical Molecular Genetic Laboratory, |
RCV000508613 | SCV001469174 | likely pathogenic | Schaaf-Yang syndrome | 2020-02-05 | no assertion criteria provided | clinical testing |