ClinVar Miner

Submissions for variant NM_000192.3(TBX5):c.404T>G (p.Leu135Arg) (rs1057519050)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Human Genetics and Genome Research Division,National Research Centre RCV000416326 SCV000328422 likely pathogenic Atrioventricular septal defect 2016-06-01 criteria provided, single submitter research Genomic DNA was extracted and followed by the Sanger sequencing and bioinformatics analysis. Analysis included computational predictions by MutationTaster2, Swiss-PdbViewer, The Ensembl Variant Effect Predictor, Protein Homology/analogY Recognition Engine V 2.0 (Phyre 2), DNA Baser v4.7.0.0, SNPnexus, Lasergene 6.0, NNSPLICE 0.9, and RegRNA 1.0.

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.