ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.1932C>T (p.Ile644=) (rs181330955)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000214944 SCV000269081 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Ile644Ile in exon 15 of ENG: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. It has been identified in 12.9% (17/132) of Mex ican chromosomes from a broad population by the 1000 Genomes Project (http://www .ncbi.nlm.nih.gov/projects/SNP; dbSNP rs181330955).
PreventionGenetics,PreventionGenetics RCV000214944 SCV000306656 benign not specified 2016-04-07 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000282878 SCV000477304 likely benign Hereditary hemorrhagic telangiectasia type 1 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000282878 SCV000603450 benign Hereditary hemorrhagic telangiectasia type 1 2020-08-14 criteria provided, single submitter clinical testing

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.