ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.6084G>A (p.Trp2028Ter) (rs1568107449)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Genetics,Sultan Qaboos University Hospital, Oman RCV000761428 SCV000891499 pathogenic Vici syndrome 2017-12-30 criteria provided, single submitter curation
SIB Swiss Institute of Bioinformatics RCV000761428 SCV000899154 likely pathogenic Vici syndrome 2019-01-17 criteria provided, single submitter curation This variant is interpreted as a Likely pathogenic for Vici syndrome, 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 => Predicted nullvariant in a gene where LOF is a known mechanism of disease.

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.