Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
SIB Swiss Institute of Bioinformatics | RCV000505697 | SCV000787479 | uncertain significance | Developmental and epileptic encephalopathy, 56 | 2018-04-16 | criteria provided, single submitter | curation | This variant is interpreted as a Uncertain Significance, for Epileptic encephalopathy, early infantile, 56, Autosomal Dominant inheritance. 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. PM6 => Assumed de novo, but without confirmation of paternity and maternity (PMID:28777935). PP3 => Multiple lines of computational evidence support a deleterious effect on the gene or gene product. |
OMIM | RCV000505697 | SCV000599982 | pathogenic | Developmental and epileptic encephalopathy, 56 | 2020-12-03 | no assertion criteria provided | literature only |