ClinVar Miner

Variants in gene combination BRCA1, LOC110485084, LOC111589216

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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
15 0 5 3 1 24

Condition and significance breakdown #

Total conditions: 3
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Condition pathogenic uncertain significance likely benign benign total
Hereditary breast and ovarian cancer syndrome 12 5 0 0 17
Breast-ovarian cancer, familial 1 4 0 0 1 5
Hereditary cancer-predisposing syndrome 0 0 3 0 3

Submitter and significance breakdown #

Total submitters: 5
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Submitter pathogenic uncertain significance likely benign benign total
Invitae 12 5 0 0 17
Department of Medical Genetics,Oslo University Hospital 3 0 0 0 3
University of Washington Department of Laboratory Medicine,University of Washington 0 0 3 0 3
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 0 0 1 1
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 1 0 0 0 1

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