Variants with conflicting interpretations "pathogenic, low penetrance" and "uncertain significance"

Submission 1 (pathogenic, low penetrance) minimum review status:		Submission 1 (pathogenic, low penetrance) method:
Submission 2 (uncertain significance) minimum review status:		Submission 2 (uncertain significance) method:
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 5

HGVS	dbSNP	gnomAD frequency
NM_000410.4(HFE):c.187C>G (p.His63Asp)	rs1799945	0.10170
NM_000140.5(FECH):c.315-48T>C	rs2272783	0.06200
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)	rs17879961	0.00434
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro)	rs370644567	0.00008
NM_004369.4(COL6A3):c.5369C>T (p.Ala1790Val)	rs140513454	0.00002

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.