Variants with conflicting interpretations "pathogenic" from Eurofins NTD LLC (GA) and "uncertain significance" from Mayo Clinic Laboratories, Mayo Clinic

Minimum review status of the submission from Eurofins NTD LLC (GA):		Collection method of the submission from Eurofins NTD LLC (GA):
Minimum review status of the other submission:		Collection method of the other submission:
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000301.5(PLG):c.112A>G (p.Lys38Glu)	rs73015965	0.00282
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe)	rs1800111	0.00208
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)	rs113994096	0.00160
NM_000157.4(GBA1):c.721G>A (p.Gly241Arg)	rs409652	0.00002
NM_000443.4(ABCB4):c.1006-1G>T	rs772823352	0.00001
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup)	rs367543046
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser)	rs61732874
Single allele

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.