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

Minimum review status of the submission from Institute for Human Genetics, University Hospital Essen:		Collection method of the submission from Institute for Human Genetics, University Hospital Essen:
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_006940.6(SOX5):c.1681A>C (p.Asn561His)	rs1591908568
NM_006940.6(SOX5):c.1711C>T (p.Arg571Trp)	rs1565669640
NM_006940.6(SOX5):c.637C>T (p.Arg213Ter)	rs767241917
NM_006950.3(SYN1):c.1439dup (p.Leu481fs)	rs1556857481
NM_006950.3(SYN1):c.528-2A>T	rs1556860663
NM_013275.6(ANKRD11):c.1381_1384del (p.Glu461fs)	rs1597464953
NM_021614.4(KCNN2):c.1598_1600del (p.Leu533del)	rs1554086554
NM_021614.4(KCNN2):c.1720G>A (p.Gly574Ser)	rs1761282724

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.