ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Laboratory of Genetics and Genomics, Institute for Developing Science and Health Initiatives Foundation and "likely pathogenic" from Baylor Genetics

Minimum review status of the submission from Laboratory of Genetics and Genomics, Institute for Developing Science and Health Initiatives Foundation: Collection method of the submission from Laboratory of Genetics and Genomics, Institute for Developing Science and Health Initiatives Foundation:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 1
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002225.5(IVD):c.960G>T (p.Gln320His) rs367814475

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.