Variants from Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.

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
41	22	228	264	159	709

Gene and significance breakdown #

Total genes and gene combinations: 31

Download table as spreadsheet

Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
BRCA2	15	2	34	58	21	125
APC	0	0	28	7	32	67
BRCA1	10	1	12	29	9	61
ATM	2	1	24	22	4	53
MSH6	1	0	14	11	10	36
PMS2	2	1	14	4	11	32
NF1	1	1	12	10	7	31
PALB2	3	1	6	17	3	30
BRIP1	1	3	4	14	6	28
MSH2	0	0	5	7	15	27
MUTYH	1	1	10	9	6	27
ATM, C11orf65	1	1	10	7	3	22
CHEK2	1	4	11	4	2	22
NBN	0	0	10	11	1	22
MLH1	0	2	5	2	11	20
CDH1	0	1	4	9	3	17
STK11	0	0	4	10	3	17
BARD1	0	0	7	3	4	14
RAD51C	1	0	4	6	1	12
BRCA1, LOC126862571	2	0	1	7	0	10
TP53	0	0	2	6	2	10
RAD51D, RAD51L3-RFFL	0	1	4	4	0	9
PTEN	0	1	0	1	2	4
KLLN, LOC130004273, PTEN	0	0	0	3	0	3
KLLN, PTEN	0	0	1	2	0	3
LOC130062899, STK11	0	0	1	1	0	2
AXIN2	0	0	0	0	1	1
LOC126860438, NBN	0	1	0	0	0	1
LOC129390903, RAD51C	0	0	1	0	0	1
RNF43	0	0	0	0	1	1
TSC1	0	0	0	0	1	1

Condition and significance breakdown #

Total conditions: 3

Download table as spreadsheet

Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Hereditary cancer-predisposing syndrome	27	18	184	208	128	565
Hereditary breast ovarian cancer syndrome	13	4	46	61	31	155
Breast-ovarian cancer, familial, susceptibility to, 1	1	0	0	1	0	2

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.