Variants in gene COL5A2 with conflicting interpretations "uncertain significance" and "likely pathogenic"

Submission 1 (uncertain significance) minimum review status:		Submission 1 (uncertain significance) method:
Submission 2 (likely pathogenic) minimum review status:		Submission 2 (likely pathogenic) 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_000393.5(COL5A2):c.322+1G>C	rs770598613	0.00014
NM_000393.5(COL5A2):c.3373G>A (p.Gly1125Arg)	rs151187317	0.00003
NM_000393.5(COL5A2):c.2104G>A (p.Gly702Arg)	rs772811492	0.00001
NM_000393.5(COL5A2):c.1401G>A (p.Pro467=)	rs1553515794
NM_000393.5(COL5A2):c.3309G>A (p.Pro1103=)	rs878853978

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.