Variants with conflicting interpretations "uncertain significance" from Cardiovascular Biomarker Research Laboratory, Mayo Clinic and "benign" from any submitter

Minimum review status of the submission from Cardiovascular Biomarker Research Laboratory, Mayo Clinic:		Collection method of the submission from Cardiovascular Biomarker Research Laboratory, Mayo Clinic:
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: 7

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000527.5(LDLR):c.941-4G>A	rs116405216	0.00771
NM_000527.5(LDLR):c.1706-10G>A	rs17248882	0.00154
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg)	rs147509697	0.00053
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)	rs150673992	0.00044
NM_000527.5(LDLR):c.507C>T (p.Asn169=)	rs146354103	0.00029
NM_000527.5(LDLR):c.1085A>C (p.Asp362Ala)	rs138315511	0.00007
NM_000527.5(LDLR):c.1836C>T (p.Ala612=)	rs143872778

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.