Variants with conflicting interpretations "likely pathogenic" from Gharavi Laboratory, Columbia University and "uncertain significance" from Invitae

Minimum review status of the submission from Gharavi Laboratory, Columbia University:		Collection method of the submission from Gharavi Laboratory, Columbia University:
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: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001126108.2(SLC12A3):c.363G>C (p.Glu121Asp)	rs146632606	0.00102
NM_022042.4(SLC26A1):c.554C>T (p.Thr185Met)	rs139024319	0.00016
NM_000091.5(COL4A3):c.172G>A (p.Gly58Ser)	rs184730597	0.00004
NM_000091.5(COL4A3):c.1927G>A (p.Gly643Ser)	rs778034451	0.00001
NM_000091.5(COL4A3):c.352G>A (p.Gly118Arg)	rs1293137291	0.00001
NM_003361.4(UMOD):c.326T>A (p.Val109Glu)	rs780462125	0.00001
NM_004621.6(TRPC6):c.643C>T (p.Arg215Trp)	rs768210838	0.00001
NM_000091.5(COL4A3):c.1201G>A (p.Gly401Arg)	rs1559878824
NM_000091.5(COL4A3):c.190G>C (p.Gly64Arg)	rs917643323
NM_003361.4(UMOD):c.197T>C (p.Leu66Pro)	rs1567311288
NM_006005.3(WFS1):c.1046TCT[1] (p.Phe350del)	rs1560418164
NM_017415.3(KLHL3):c.1079G>A (p.Arg360Gln)	rs1561586322

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.