Variants studied for Hereditary cancer-predisposing syndrome; Cardiovascular phenotype

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
898	261	3806	1885	67	6917

Gene and significance breakdown #

Total genes and gene combinations: 6

Download table as spreadsheet

Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
NF1	654	173	2543	1317	36	4723
LZTR1	219	86	1187	523	29	2044
LOC130067016, LZTR1	13	1	44	31	1	90
LOC111811965, MIR4733HG, NF1	11	1	31	14	0	57
EVI2A, NF1	1	0	0	0	1	2
LOC106113036, NF1	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 1

Download table as spreadsheet

Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Ambry Genetics	898	261	3806	1885	67	6917

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.