Variants with conflicting interpretations "pathogenic" from Daryl Scott Lab, Baylor College of Medicine and "uncertain significance" from any submitter

Minimum review status of the submission from Daryl Scott Lab, Baylor College of Medicine:		Collection method of the submission from Daryl Scott Lab, Baylor College of Medicine:
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: 6

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro)	rs145303331	0.00062
NM_003235.5(TG):c.2359C>T (p.Arg787Ter)	rs752966476	0.00002
NM_000521.4(HEXB):c.160C>A (p.Pro54Thr)	rs778119481
NM_006015.6(ARID1A):c.98_107del (p.Glu33fs)	rs2124740134
NM_016464.5(TMEM138):c.389A>G (p.Tyr130Cys)	rs387907135
Single allele

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.