Variants with conflicting interpretations "uncertain significance" from Center of Genomic medicine, Geneva, University Hospital of Geneva and "likely pathogenic" from any submitter

Minimum review status of the submission from Center of Genomic medicine, Geneva, University Hospital of Geneva:		Collection method of the submission from Center of Genomic medicine, Geneva, University Hospital of Geneva:
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: 4

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001384900.1(SEMA3D):c.1272C>A (p.His424Gln)	rs141893504	0.00428
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val)	rs150212784	0.00039
NM_000091.5(COL4A3):c.2657-1G>T	rs373324875
NM_001134407.3(GRIN2A):c.2197G>A (p.Ala733Thr)	rs796052550

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.