Variants with conflicting interpretations "uncertain significance" from Institute of Human Genetics, Cologne University and "likely pathogenic" from any submitter

Minimum review status of the submission from Institute of Human Genetics, Cologne University:		Collection method of the submission from Institute of Human Genetics, Cologne University:
Minimum review status of the other submission:		Collection method of the other submission:
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 3

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000297.4(PKD2):c.773T>C (p.Leu258Pro)	rs2110104859
NM_001042492.3(NF1):c.2410-13A>G	rs1567848711
NM_053025.4(MYLK):c.4289-2A>C

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.