ClinVar Miner

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

Location: South Africa  Primary collection method: clinical testing
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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
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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