Variants with conflicting interpretations "likely pathogenic" from Gharavi Laboratory, Columbia University and "pathogenic" from CeGaT Center for Human Genetics Tuebingen

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: 6

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_153240.5(NPHP3):c.2694-2_2694-1del	rs751527253	0.00026
NM_001126108.2(SLC12A3):c.2864G>A (p.Arg955Gln)	rs202114767	0.00008
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp)	rs200391019	0.00006
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg)	rs772708743	0.00002
NM_033380.3(COL4A5):c.2965_2982del (p.Asp989_Gly994del)	rs104886374
NM_033380.3(COL4A5):c.3427G>A (p.Gly1143Ser)	rs104886228

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.