Variants with conflicting interpretations "likely pathogenic" from Institute of Human Genetics, University Hospital of Duesseldorf and "pathogenic" from any submitter

Minimum review status of the submission from Institute of Human Genetics, University Hospital of Duesseldorf:		Collection method of the submission from Institute of Human Genetics, University Hospital of Duesseldorf:
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_000372.5(TYR):c.1205G>A (p.Arg402Gln)	rs1126809	0.18094
NM_005105.5(RBM8A):c.-21G>A	rs139428292	0.01871
NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp)	rs181860632	0.00010
NM_000398.7(CYB5R3):c.757G>A (p.Val253Met)	rs144071404	0.00006
NM_000051.4(ATM):c.3576G>A (p.Lys1192=)	rs587776551	0.00001
NM_198578.4(LRRK2):c.4322G>A (p.Arg1441His)	rs34995376	0.00001
NM_000038.6(APC):c.4786del (p.Gln1596fs)
NM_001007527.2(LMBRD2):c.1448G>A (p.Arg483His)	rs2111857835
NM_005591.4(MRE11):c.1222dup (p.Thr408fs)	rs774440500
NM_006757.4(TNNT3):c.188G>A (p.Arg63His)	rs121434638
NM_006852.6(TLK2):c.890G>A (p.Gly297Asp)	rs1555639254
NM_198880.3(QRICH1):c.2207G>A (p.Ser736Asn)	rs2093229974

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.