Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Groupe Hospitalier Pitie Salpetriere, |
RCV000496160 | SCV000586789 | likely pathogenic | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | 2017-01-06 | criteria provided, single submitter | clinical testing | ASD with Intellectual disability |