Variants with conflicting interpretations "pathogenic" from Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences and "likely pathogenic" from any submitter

Minimum review status of the submission from Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences:		Collection method of the submission from Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences:
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: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_003995.4(NPR2):c.1435C>T (p.Arg479Ter)	rs1057519324	0.00001
NM_004826.4(ECEL1):c.2023G>A (p.Ala675Thr)	rs606231471	0.00001
NM_000202.8(IDS):c.1264T>C (p.Cys422Arg)	rs199422229
NM_000202.8(IDS):c.1402C>T (p.Arg468Trp)	rs199422231
NM_000202.8(IDS):c.253G>A (p.Ala85Thr)	rs113993949
NM_000202.8(IDS):c.263G>A (p.Arg88His)	rs2089497431
NM_000202.8(IDS):c.601_602del (p.Ser201fs)	rs2124046861
NM_000202.8(IDS):c.683C>T (p.Pro228Leu)	rs113993945
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)	rs61749721
NM_005957.5(MTHFR):c.1070G>A (p.Arg357His)	rs977038830

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.