Variants in gene combination ELP4, PAX6 with conflicting interpretations reported as "uncertain significance and "likely benign"

Submission 1 (uncertain significance) minimum review status:		Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status:		Submission 2 (likely 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: 6

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_019040.5(ELP4):c.*2740G>A	rs149777109	0.00394
NM_019040.5(ELP4):c.*3242G>A	rs187705792	0.00303
NM_019040.5(ELP4):c.*3904G>A	rs3026397	0.00189
NM_019040.5(ELP4):c.*2982G>A	rs191399467	0.00076
NM_001368894.2(PAX6):c.*891G>A	rs530259403	0.00065
NM_019040.5(ELP4):c.*3528A>G	rs143185259	0.00060

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.