Variants with conflicting interpretations "uncertain significance" from Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia and "pathogenic" from any submitter

Minimum review status of the submission from Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia:		Collection method of the submission from Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia:
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: 4

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000051.4(ATM):c.3567del (p.Leu1189_Val1190insTer)	rs1555091431
NM_006946.4(SPTBN2):c.1438C>T (p.Arg480Trp)	rs397514749
NM_015215.4(CAMTA1):c.4621C>T (p.Arg1541Ter)	rs2096866595
NM_031844.3(HNRNPU):c.622C>T (p.Gln208Ter)	rs1573337552

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.