Variants with conflicting interpretations "likely pathogenic" from Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen and "likely benign" from any submitter

Minimum review status of the submission from Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen:		Collection method of the submission from Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen:
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: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001098.3(ACO2):c.220C>G (p.Leu74Val)	rs141772938	0.00383
NM_213599.3(ANO5):c.155A>G (p.Asn52Ser)	rs143777403	0.00238
NM_000153.4(GALC):c.334A>G (p.Thr112Ala)	rs147313927	0.00229
NM_000350.3(ABCA4):c.1928T>G (p.Val643Gly)	rs61754024	0.00178
NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser)	rs201652272	0.00066
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala)	rs191564916	0.00060
NM_002878.4(RAD51D):c.796C>T (p.Arg266Cys)	rs587781813	0.00004
NM_000350.3(ABCA4):c.4926C>G (p.Ser1642Arg)	rs61753017	0.00001

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.