Variants with conflicting interpretations "uncertain significance" from Giacomini Lab, University of California, San Francisco and "pathogenic" from Natera, Inc.

Minimum review status of the submission from Giacomini Lab, University of California, San Francisco:		Collection method of the submission from Giacomini Lab, University of California, San Francisco:
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_003060.4(SLC22A5):c.338G>A (p.Cys113Tyr)	rs727504159	0.00001
NM_003060.4(SLC22A5):c.248G>T (p.Arg83Leu)	rs72552726
NM_003060.4(SLC22A5):c.797C>T (p.Pro266Leu)	rs538372785

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.