Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000999001 | SCV001155379 | likely benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | ASAH1: BP4, BS2; ASAH1-AS1: BS2 |
Mendelics | RCV002248735 | SCV002517979 | benign | not specified | 2022-05-04 | criteria provided, single submitter | clinical testing | |
Bioinformatics Core, |
RCV000656013 | SCV000588289 | pathogenic | Childhood epilepsy with centrotemporal spikes | 2017-01-01 | no assertion criteria provided | case-control | CAADphred>15 |