ClinVar Miner

Variants studied for hereditary angioedema type 1

Included ClinVar conditions (2):
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
173 59 27 13 43 312

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SERPING1 173 59 27 13 43 312

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
DNA-diagnostics Laboratory, Research Centre For Medical Genetics 122 50 1 1 0 174
Illumina Laboratory Services, Illumina 0 0 19 8 13 40
CeMIA 0 1 0 4 30 35
Department of Immunology and Histocompatibility, University of Thessaly 28 3 1 0 0 32
OMIM 10 0 0 0 0 10
Division of Rheumatology, Allergy and Immunology, UCSD 7 1 0 0 0 8
Baylor Genetics 2 0 1 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 0 1 0 0 3
Central Haematology Laboratory, Luzerner Kantonsspital 2 0 1 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 2 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 2 2
Fulgent Genetics, Fulgent Genetics 1 0 1 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 2
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 2 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 2
Centogene AG - the Rare Disease Company 1 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 1
Genatak 0 1 0 0 0 1
Bioserve Biotechnologies India Pvt Ltd 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 1

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