Variants from Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute

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)

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
128	9	46	238	403	824

Gene and significance breakdown #

Total genes and gene combinations: 41

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
BRCA2	48	3	9	81	117	258
BRCA1	37	1	3	42	60	143
ATM	7	1	12	27	50	97
PALB2	3	1	1	20	15	40
ATM, C11orf65	5	0	3	14	14	36
PMS2	3	0	0	4	21	28
CHEK2	2	3	10	7	4	26
MSH6	3	0	1	1	19	24
MSH2	2	0	1	4	15	22
BRIP1	0	0	3	6	11	20
MLH1	1	0	1	3	15	20
BRCA1, LOC126862571	8	0	0	4	7	19
TP53	6	0	0	2	7	15
RAD51C	1	0	1	5	4	11
PTEN	1	0	0	2	4	7
EPCAM	0	0	0	0	6	6
RAD51D, RAD51L3-RFFL	0	0	1	0	5	6
BRCA1, LOC111589215	0	0	0	4	1	5
CDH1	0	0	0	0	5	5
CDKN2A	0	0	0	1	3	4
STK11	0	0	0	1	3	4
APC	0	0	0	2	1	3
DHFR, MSH3	0	0	0	0	3	3
MUTYH	1	0	0	1	1	3
NF1	0	0	0	0	2	2
POT1	0	0	0	0	2	2
FBXO11, MSH6	0	0	0	0	1	1
LOC107982234, WT1	0	0	0	0	1	1
LOC129933707, MSH6	0	0	0	0	1	1
LOC130002133, PTCH1	0	0	0	1	0	1
LOC130061310, RAD51C	0	0	0	1	0	1
MAX	0	0	0	0	1	1
MET	0	0	0	0	1	1
MSH3	0	0	0	1	0	1
POLD1	0	0	0	0	1	1
POLE	0	0	0	1	0	1
PTCH1	0	0	0	1	0	1
SDHA	0	0	0	0	1	1
SMAD4	0	0	0	1	0	1
SMARCA4	0	0	0	1	0	1
TSC2	0	0	0	0	1	1

Condition and significance breakdown #

Total conditions: 2

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
not provided	128	9	46	238	0	421
not specified	0	0	0	0	403	403

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