Variants with conflicting interpretations "likely pathogenic" from Cirak Lab, University Hospital Cologne and "pathogenic" from any submitter

Minimum review status of the submission from Cirak Lab, University Hospital Cologne:		Collection method of the submission from Cirak Lab, University Hospital Cologne:
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: 2

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_020919.4(ALS2):c.4573dup (p.Val1525fs)	rs730882256
NM_020919.4(ALS2):c.470G>A (p.Cys157Tyr)	rs121908138

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.