Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Lupski Lab, |
RCV000454222 | SCV000537913 | likely pathogenic | Abnormal brain morphology | criteria provided, single submitter | research | Homozygous stop gain | |
SIB Swiss Institute of Bioinformatics | RCV000627075 | SCV000883258 | likely pathogenic | Developmental and epileptic encephalopathy, 63 | 2018-10-15 | criteria provided, single submitter | curation | This variant is interpreted as Likely Pathogenic, for Epileptic encephalopathy, early infantile, 63, autosomal recessive. The following ACMG Tag(s) were applied: PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PVS1-Strong => PVS1 downgraded in strength to Strong (https://www.ncbi.nlm.nih.gov/pubmed/26539891). |
OMIM | RCV000627075 | SCV000747885 | pathogenic | Developmental and epileptic encephalopathy, 63 | 2020-11-17 | no assertion criteria provided | literature only |