Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Neurogenetics Research Program, |
RCV000856832 | SCV000920584 | pathogenic | Epilepsy, familial adult myoclonic, 2 | 2019-06-03 | no assertion criteria provided | research | This expansion or ones with the same sequence composition of similar size segregates with disease in 158 individuals from 22 families diagnosed with FAME. 16 of these families have confirmed linkage to chromosome 2 with an interval that spans the STARD7 gene. |