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Items: 4

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr13:32912750
GRCh38:
Chr13:32338613
BRCA2Familial cancer of breast, Breast-ovarian cancer, familial 2, Hereditary cancer-predisposing syndrome
GO-ESP:0.00001(-)Pathogenic
(Sep 8, 2016)
reviewed by expert panel
2.
BRCA2Breast-ovarian cancer, familial 2Pathogenic
(Feb 1, 2001)
no assertion criteria provided
3.
GRCh37:
Chr13:32911300-32911303
GRCh38:
Chr13:32337163-32337166
BRCA2Breast-ovarian cancer, familial 2, Breast-ovarian cancer, familial 1, Hereditary breast and ovarian cancer syndrome,
not specified, not provided, Hereditary cancer-predisposing syndrome,
Breast cancer
GO-ESP:0.00032(-)
GO-ESP:0.00002(-)
Pathogenic
(Apr 22, 2016)
reviewed by expert panel
4.
GRCh37:
Chr13:32914767-32914768
GRCh38:
Chr13:32340630-32340631
BRCA2Breast-ovarian cancer, familial 2, Hereditary breast and ovarian cancer syndrome, not provided,
Hereditary cancer-predisposing syndrome
GO-ESP:0.00002(-)Pathogenic
(Apr 22, 2016)
reviewed by expert panel
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