ClinVar Miner

Variants from GeneKor MSA

Location: Greece — Primary collection method: clinical testing
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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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 risk factor total
244 50 407 17 56 1 775

Gene and significance breakdown #

Total genes and gene combinations: 45
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
BRCA2 88 6 22 0 28 0 144
BRCA1 98 6 14 0 25 0 143
ATM 1 4 36 3 0 0 44
CHEK2 4 7 20 1 0 0 32
PALB2 10 3 18 0 0 0 31
APC 3 1 22 0 0 1 27
PMS2 4 1 19 3 0 0 27
ATM, C11orf65 5 0 20 0 0 0 25
RAD50 6 0 17 1 0 0 24
MSH6 4 1 15 2 0 0 22
BRIP1 3 2 15 0 0 0 20
MSH2 2 0 17 0 0 0 19
BLM 1 0 14 3 0 0 18
BARD1 1 1 13 0 0 0 15
MLH1 1 4 8 1 0 0 14
MUTYH 2 3 9 0 0 0 14
NF1 1 0 13 0 0 0 14
RET 0 1 13 0 0 0 14
CDH1 0 0 13 0 0 0 13
MRE11 0 0 13 0 0 0 13
RAD51D, RAD51L3-RFFL 0 0 13 0 0 0 13
NBN 2 1 8 0 0 0 11
TP53 2 4 4 0 0 0 10
RAD51B 0 1 8 0 0 0 9
MEN1 0 0 8 0 0 0 8
RAD51C 1 1 5 1 0 0 8
ABRAXAS1 1 0 2 1 0 0 4
BMPR1A 0 0 4 0 0 0 4
STK11 0 1 3 0 0 0 4
CDK4, TSPAN31 0 0 3 0 0 0 3
EPCAM 0 0 3 0 0 0 3
PTEN 0 1 2 0 0 0 3
RAD50, TH2LCRR 1 0 2 0 0 0 3
XRCC2 0 1 2 0 0 0 3
BRCA2, LOC106721785 0 0 0 0 2 0 2
CDKN2A 0 0 2 0 0 0 2
EPCAM, MSH2 2 0 0 0 0 0 2
LOC107303340, VHL 0 0 1 1 0 0 2
VHL 1 0 1 0 0 0 2
BRCA1, LOC111589215 0 0 0 0 1 0 1
CDK4 0 0 1 0 0 0 1
CHEK1 0 0 1 0 0 0 1
LOC106736614, RET 0 0 1 0 0 0 1
RAD50, TH2-LCR, TH2LCRR 0 0 1 0 0 0 1
SMAD4 0 0 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Hereditary cancer-predisposing syndrome 60 25 407 17 0 1 510
not provided 86 18 0 0 0 0 104
not specified 10 1 0 0 56 0 67
Familial cancer of breast 57 4 0 0 0 0 61
Hereditary breast and ovarian cancer syndrome 22 2 0 0 0 0 24
Breast-ovarian cancer, familial 1 5 0 0 0 0 0 5
Ovarian cancer 4 0 0 0 0 0 4

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