ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Institute of Reproductive Genetics, University of Münster and "benign" from any submitter

Minimum review status of the submission from Institute of Reproductive Genetics, University of Münster: Collection method of the submission from Institute of Reproductive Genetics, University of Münster:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 4
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_152467.5(KLHL10):c.887T>C (p.Ile296Thr) rs61752339 0.00574
NM_031272.5(TEX14):c.709C>G (p.Gln237Glu) rs35551271 0.00360
NM_021951.3(DMRT1):c.671A>G (p.Asn224Ser) rs140506267 0.00108
NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120

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.