Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre de Biologie Pathologie Génétique, |
RCV001252426 | SCV001428182 | likely pathogenic | Intellectual disability-hypotonic facies syndrome, X-linked, 1 | 2019-01-01 | no assertion criteria provided | clinical testing |