Variants from National Health Laboratory Service, Universitas Academic Hospital and University of the Free State

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
80	7	113	396	414	1010

Gene and significance breakdown #

Total genes and gene combinations: 27

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
BRCA2	34	2	35	71	85	227
BRCA1	32	4	14	41	58	149
ATM	2	0	6	48	49	105
FANCD2, LOC107303338	0	0	1	19	36	56
ATM, C11orf65	2	0	6	26	17	51
BARD1	2	0	9	16	24	51
NBN	0	0	5	16	21	42
BRIP1	0	1	3	14	20	38
PALB2	1	0	4	18	14	37
MRE11	0	0	3	21	11	35
RAD51B	0	0	4	16	13	33
RAD54L	0	0	4	22	4	30
TP53	1	0	3	10	15	29
CDK12	0	0	1	19	5	25
CHEK2	2	0	4	5	9	20
BRCA1, LOC126862571	3	0	5	3	6	17
PPP2R2A	0	0	1	9	6	16
FANCD2, FANCD2OS	0	0	2	8	5	15
NCR1, NLRP7	0	0	2	1	4	7
CDK12, LOC126862553	0	0	0	5	1	6
LRRC41, RAD54L	0	0	1	3	1	5
BARD1, LOC129935544	0	0	0	0	4	4
NLRP7	1	0	0	2	1	4
FANCD2	0	0	0	0	3	3
LOC126860438, NBN	0	0	0	2	1	3
BRIP1, LOC130061360	0	0	0	1	0	1
KHDC3L	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
Hereditary breast ovarian cancer syndrome	79	7	111	393	408	998
Hydatidiform mole	1	0	2	3	6	12

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