Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Medical Genetics Clinic, |
RCV000782175 | SCV000863976 | likely pathogenic | ACTL6B-related neurodevelopmental disorder | 2018-12-31 | criteria provided, single submitter | clinical testing | The c.1261_1275del variant is found in two related consanguineous families with at least three affected individuals. |