Variants in gene combination CDH23, PSAP with conflicting interpretations reported as "likely benign and "uncertain significance"

Submission 1 (likely benign) minimum review status:		Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status:		Submission 2 (uncertain significance) 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: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_022124.6(CDH23):c.*361C>A	rs115033851	0.00420
NM_022124.6(CDH23):c.*515C>A	rs16929375	0.00385
NM_022124.6(CDH23):c.10026C>T (p.Asp3342=)	rs377118941	0.00185
NM_022124.6(CDH23):c.*68G>C	rs527311705	0.00182
NM_022124.6(CDH23):c.*434G>A	rs529522213	0.00133
NM_022124.6(CDH23):c.*430A>T	rs562268606	0.00131
NM_022124.6(CDH23):c.9942G>A (p.Thr3314=)	rs376804660	0.00053
NM_022124.6(CDH23):c.*141G>A	rs535544696	0.00031
NM_022124.6(CDH23):c.*104G>C	rs377312107	0.00029
NM_022124.6(CDH23):c.9629T>C (p.Ile3210Thr)	rs144688588	0.00026
NM_022124.6(CDH23):c.9799C>T (p.Arg3267Cys)	rs201727938	0.00016
NM_022124.6(CDH23):c.9983G>A (p.Arg3328His)	rs148475933	0.00009
NM_022124.6(CDH23):c.9291G>T (p.Lys3097Asn)	rs368441850	0.00006
NM_022124.6(CDH23):c.9860G>A (p.Gly3287Asp)	rs562590210	0.00001
NM_022124.6(CDH23):c.*588del	rs148667421
NM_022124.6(CDH23):c.9739-12G>A	rs200638595

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.