ClinVar Miner

Variants from Cancer Variant Interpretation Group UK, Institute of Cancer Research, London

Location: United Kingdom  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
25 49 20 3 1 97

Gene and significance breakdown #

Total genes and gene combinations: 17
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
BRCA2 8 29 2 0 0 39
BRCA1 6 5 3 0 0 14
TP53 1 4 8 0 0 13
MLH1 1 3 2 0 0 6
PTEN 0 4 2 0 0 6
MSH2 1 2 1 0 0 4
APC 1 0 1 1 0 3
SDHB 1 1 0 1 1 3
ATM, C11orf65 1 0 0 0 0 1
BMPR1A 0 1 0 0 0 1
BRCA1, LOC126862571 0 0 0 1 0 1
CDH1 0 0 1 0 0 1
CHEK2 1 0 0 0 0 1
PALB2 1 0 0 0 0 1
RUNX1 1 0 0 0 0 1
SDHA 1 0 0 0 0 1
SDHD 1 0 0 0 0 1

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Hereditary breast ovarian cancer syndrome 14 33 5 1 0 53
Li-Fraumeni syndrome 1 3 7 0 0 11
Hereditary nonpolyposis colon cancer 1 3 2 0 0 6
Hereditary cancer-predisposing syndrome 3 1 1 0 0 5
Cowden syndrome 0 3 1 0 0 4
Paraganglioma 2 1 0 0 1 4
PTEN hamartoma tumor syndrome 0 2 1 0 0 3
Familial adenomatous polyposis 1 0 0 1 1 0 2
Hereditary nonpolyposis colorectal neoplasms 0 1 1 0 0 2
Lynch syndrome 1 1 0 0 0 2
Pheochromocytoma; Paraganglioma 1 0 0 1 0 2
Ataxia-telangiectasia syndrome 1 0 0 0 0 1
Breast-ovarian cancer, familial, susceptibility to, 1 0 1 0 0 0 1
Hereditary diffuse gastric adenocarcinoma 0 0 1 0 0 1
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 1 0 0 0 0 1
Juvenile Polyposis 0 1 0 0 0 1
Pheochromocytoma 0 0 0 0 1 1

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