ClinVar Miner

Variants from Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)

Location: Australia — Primary collection method: curation
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
4826 0 7 1179 1246 7258

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic uncertain significance likely benign benign total
BRCA2 2637 4 738 633 4012
BRCA1 2189 3 441 581 3214
BRCA1, NBR2 0 0 0 9 9
BRCA1, LOC111589215 0 0 0 7 7
BRCA1, LOC111589215, NBR2 0 0 0 7 7
BRCA2, LOC106721785 0 0 0 6 6
BRCA1, LOC110485084 0 0 0 1 1
BRCA1, LOC110485084, LOC111589216 0 0 0 1 1
BRCA2, LOC112163653 0 0 0 1 1

Condition and significance breakdown #

Total conditions: 2
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Condition pathogenic uncertain significance likely benign benign total
Breast-ovarian cancer, familial 2 2637 4 738 640 4019
Breast-ovarian cancer, familial 1 2189 3 441 606 3239

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