ClinVar Miner

Submissions for variant NM_006651.4(CPLX1):c.322G>T (p.Glu108Ter) (rs1060499735)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000454222 SCV000537913 likely pathogenic Abnormality of 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 (
OMIM RCV000627075 SCV000747885 pathogenic Developmental and epileptic encephalopathy, 63 2020-11-17 no assertion criteria provided literature only

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.