Variants in gene EPHB4 with conflicting interpretations "uncertain significance" and "benign"

Submission 1 (uncertain significance) minimum review status:		Submission 1 (uncertain significance) method:
Submission 2 (benign) minimum review status:		Submission 2 (benign) method:
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 5

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004444.5(EPHB4):c.1144G>A (p.Gly382Ser)	rs114926839	0.00226
NM_004444.5(EPHB4):c.1692-6C>A	rs202035530	0.00051
NM_004444.5(EPHB4):c.1384G>A (p.Gly462Arg)	rs146674844	0.00036
NM_004444.5(EPHB4):c.1181G>A (p.Arg394Gln)	rs373471680	0.00004
NM_004444.5(EPHB4):c.2698G>C (p.Asp900His)	rs200795996

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.