ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from GeneDx and "pathogenic" from Natera, Inc.

Minimum review status of the submission from GeneDx: Collection method of the submission from GeneDx:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 3
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004453.4(ETFDH):c.1414G>A (p.Gly472Arg) rs746598421 0.00004
NM_000492.4(CFTR):c.1210-2A>C rs397508179
NM_004453.4(ETFDH):c.524G>A (p.Arg175His) rs121964955

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.