ClinVar Miner

Variants studied for immunodeficiency due to a late component of complement deficiency

Included ClinVar conditions (10):
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
45 30 90 54 5 215

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
C5 4 4 56 41 0 105
C6 9 10 6 5 1 28
C7 14 5 7 2 0 26
C8B 9 1 11 1 2 23
C9 7 8 7 2 0 21
C8A 2 2 1 2 2 9
C5, C5-OT1 0 0 2 1 0 3

Submitter and significance breakdown #

Total submitters: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 7 12 66 52 2 139
OMIM 35 0 0 0 0 35
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 2 12 0 0 15
Baylor Genetics 6 2 5 0 0 13
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 3 5 3 0 0 11
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 6 2 0 0 0 8
Revvity Omics, Revvity 3 2 1 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 0 0 0 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 3 0 1 0 0 4
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 2 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 0 0 0 0 3
New York Genome Center 0 0 3 0 0 3
Genome-Nilou Lab 0 0 0 0 3 3
Neuberg Centre For Genomic Medicine, NCGM 1 0 2 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 2 0 0 0 2
Mendelics 2 0 0 0 0 2
ITMI 0 2 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 1 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 2 0 0 0 0 2
Reproductive Health Research and Development, BGI Genomics 2 0 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Laboratory of Molecular Oncology, N.N. Petrov Institute of Oncology 0 0 1 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 1 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 1 0 0 0 0 1
DASA 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 1
Pio d'adamo Lab, University Of Trieste 0 1 0 0 0 1

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