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 not provided total
4906 0 7 1179 1360 1 7453

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic uncertain significance likely benign benign not provided total
BRCA2 2677 3 738 686 0 4104
BRCA1 2229 4 441 642 1 3317
BRCA1, NBR2 0 0 0 9 0 9
BRCA1, LOC111589215 0 0 0 7 0 7
BRCA1, LOC111589215, NBR2 0 0 0 7 0 7
BRCA2, LOC106721785 0 0 0 4 0 4
BRCA2, LOC106721785, ZAR1L 0 0 0 2 0 2
BRCA1, LOC110485084 0 0 0 1 0 1
BRCA1, LOC110485084, LOC111589216 0 0 0 1 0 1
BRCA2, LOC112163653 0 0 0 1 0 1

Condition and significance breakdown #

Total conditions: 2
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Condition pathogenic uncertain significance likely benign benign not provided total
Breast-ovarian cancer, familial 2 2677 3 738 693 0 4111
Breast-ovarian cancer, familial 1 2229 4 441 667 1 3342

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