Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
SIB Swiss Institute of Bioinformatics | RCV000785971 | SCV000996410 | uncertain significance | Developmental and epileptic encephalopathy, 76 | 2019-07-28 | criteria provided, single submitter | curation | This variant is interpreted as a variant of uncertain significance for Epileptic encephalopathy, early infantile, 76, autosomal recessive. The following ACMG Tag(s) were applied: PM2, PS3-supporting. |
Mendelics | RCV000785971 | SCV002517512 | pathogenic | Developmental and epileptic encephalopathy, 76 | 2022-05-04 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000785971 | SCV000924556 | pathogenic | Developmental and epileptic encephalopathy, 76 | 2020-11-25 | no assertion criteria provided | literature only | |
CHU Sainte- |
RCV001028076 | SCV001190859 | likely pathogenic | ACTL6B-related recessive epilepsy | 2019-03-01 | no assertion criteria provided | research |