Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
SIB Swiss Institute of Bioinformatics | RCV000785969 | SCV000996414 | likely pathogenic | Developmental and epileptic encephalopathy, 76 | 2019-07-28 | criteria provided, single submitter | curation | This variant is interpreted as a Likely pathogenic for Epileptic encephalopathy, early infantile, 76, autosomal recessive. The following ACMG Tag(s) were applied: PM2, PP3, PP1, PM3. |
OMIM | RCV000785969 | SCV000924554 | pathogenic | Developmental and epileptic encephalopathy, 76 | 2020-11-25 | no assertion criteria provided | literature only | |
CHU Sainte- |
RCV001028087 | SCV001190870 | likely pathogenic | ACTL6B-related recessive epilepsy | 2019-03-01 | no assertion criteria provided | research |