ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Claritas Genomics and "likely pathogenic" from NIHR Bioresource Rare Diseases, University of Cambridge

Minimum review status of the submission from Claritas Genomics: Collection method of the submission from Claritas Genomics:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 2
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020361.5(CPA6):c.799G>A (p.Gly267Arg) rs61738009 0.00239
NM_020361.5(CPA6):c.619C>G (p.Gln207Glu) rs35993949 0.00121

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.