Variants with conflicting interpretations "likely benign" from Department of Pathology and Laboratory Medicine, Sinai Health System and "risk factor" from any submitter

Minimum review status of the submission from Department of Pathology and Laboratory Medicine, Sinai Health System:		Collection method of the submission from Department of Pathology and Laboratory Medicine, Sinai Health System:
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: 5

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_002386.4(MC1R):c.478C>T (p.Arg160Trp)	rs1805008	0.04851
NM_002386.4(MC1R):c.451C>T (p.Arg151Cys)	rs1805007	0.04832
NM_001083116.3(PRF1):c.272C>T (p.Ala91Val)	rs35947132	0.02791
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn)	rs1805128	0.00841
NM_000249.4(MLH1):c.394G>C (p.Asp132His)	rs28930073	0.00019

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.