Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
SIB Swiss Institute of Bioinformatics | RCV000853486 | SCV000996413 | 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, PVS1-Strong. |
Revvity Omics, |
RCV001785744 | SCV002021293 | likely pathogenic | not provided | 2021-01-07 | criteria provided, single submitter | clinical testing | |
CHU Sainte- |
RCV001028083 | SCV001190866 | likely pathogenic | ACTL6B-related recessive epilepsy | 2019-03-01 | no assertion criteria provided | research |