Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biochemical Molecular Genetic Laboratory, |
RCV001027973 | SCV001190720 | likely pathogenic | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | 2020-02-05 | no assertion criteria provided | clinical testing |