ClinVar Miner

Variants in gene combination BRCA1, LOC111589215

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Minimum submission review status: Collection method:
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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
3 0 40 41 12 84

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic uncertain significance likely benign benign total
Hereditary breast ovarian cancer syndrome 1 13 17 4 35
Breast-ovarian cancer, familial, susceptibility to, 1 1 12 9 9 28
not specified 0 7 9 4 20
not provided 0 5 10 5 17
Hereditary cancer-predisposing syndrome 0 5 4 1 10
Malignant tumor of breast 0 2 1 0 3
BRCA1-related disorder 0 0 1 0 1
Breast and/or ovarian cancer 0 0 0 1 1
Familial cancer of breast 1 0 0 0 1
Fanconi anemia, complementation group S 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 1 12 17 4 34
GeneDx 0 2 15 2 19
Counsyl 0 5 3 1 9
Genetic Services Laboratory, University of Chicago 0 6 0 2 8
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 0 0 7 7
Illumina Laboratory Services, Illumina 0 6 1 0 7
Department of Pathology and Laboratory Medicine, Sinai Health System 0 4 1 2 7
Mendelics 1 0 4 1 6
Sema4, Sema4 0 4 1 1 6
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 5 0 5
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute 0 0 4 1 5
Quest Diagnostics Nichols Institute San Juan Capistrano 0 3 0 1 4
CeGaT Center for Human Genetics Tuebingen 0 0 1 2 3
Color Diagnostics, LLC DBA Color Health 0 1 1 0 2
University of Washington Department of Laboratory Medicine, University of Washington 0 0 2 0 2
Breakthrough Genomics, Breakthrough Genomics 0 0 0 2 2
Baylor Genetics 0 0 0 1 1
PreventionGenetics, part of Exact Sciences 0 0 1 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 1 0 1
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 0 0 0 1 1
Breast Cancer Information Core (BIC) (BRCA1) 0 1 0 0 1
GeneKor MSA 0 0 0 1 1
Department of Medical Genetics, University Hospital of North Norway 0 0 1 0 1
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 1
Center of Medical Genetics and Primary Health Care 0 1 0 0 1
BRCAlab, Lund University 0 0 1 0 1

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