Variants from Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)

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	not provided	total
4894	0	5	1178	1350	1	7428

Gene and significance breakdown #

Total genes and gene combinations: 12

Download table as spreadsheet

Gene or gene combination	pathogenic	uncertain significance	likely benign	benign	not provided	total
BRCA2	2671	2	737	680	0	4090
BRCA1	1820	1	369	609	1	2800
BRCA1, LOC126862571	403	2	72	27	0	504
BRCA1, LOC111589215, NBR2	0	0	0	12	0	12
BRCA1, LOC111589215	0	0	0	7	0	7
BRCA1, NBR2	0	0	0	4	0	4
BRCA2, LOC106721785	0	0	0	4	0	4
BRCA2, LOC106721785, ZAR1L	0	0	0	2	0	2
BRCA2, LOC130009523	0	0	0	2	0	2
BRCA1, LOC110485084	0	0	0	1	0	1
BRCA1, LOC110485084, LOC111589216	0	0	0	1	0	1
BRCA2, LOC112163653	0	0	0	1	0	1

Condition and significance breakdown #

Total conditions: 2

Download table as spreadsheet

Condition	pathogenic	uncertain significance	likely benign	benign	not provided	total
Breast-ovarian cancer, familial, susceptibility to, 2	2671	2	737	689	0	4099
Breast-ovarian cancer, familial, susceptibility to, 1	2223	3	441	661	1	3329

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.