Variants with conflicting interpretations "pathogenic" from Mendelics and "likely benign" from any submitter

Minimum review status of the submission from Mendelics:		Collection method of the submission from Mendelics:
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_001386094.1(AGBL1):c.3044G>C (p.Cys1015Ser)	rs181958589	0.00124
NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter)	rs74315329	0.00089
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys)	rs183105855	0.00019
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr)	rs730882109	0.00003
NM_000527.5(LDLR):c.313+2T>C	rs793888517	0.00001
NM_000546.6(TP53):c.844C>T (p.Arg282Trp)	rs28934574	0.00001
NM_000492.3(CFTR):c.1210-12T[5]	rs1805177
NM_000527.5(LDLR):c.1801G>C (p.Asp601His)
NM_000527.5(LDLR):c.828C>A (p.Cys276Ter)	rs146651743
NM_005476.7(GNE):c.2086G>A (p.Val696Met)	rs121908627

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.