ClinVar Miner

Variants in gene PLCG2

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 not provided total
6 8 673 651 192 5 1450

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Familial cold autoinflammatory syndrome 3 4 2 592 567 97 0 1262
not provided 0 1 95 71 131 4 283
Familial cold autoinflammatory syndrome 3; Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation 0 0 92 89 1 1 182
not specified 0 0 2 4 56 0 62
PLCG2-related condition 0 0 13 29 4 0 46
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation 2 2 17 0 13 0 34
Inborn genetic diseases 0 0 32 0 0 0 32
B-cell chronic lymphocytic leukemia 0 3 0 0 0 0 3
Clonal Cytopenia of Undetermined Significance 0 0 0 1 0 0 1
Familial cold autoinflammatory syndrome 0 0 0 1 0 0 1
Recurrent fever 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 47
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 1 1 591 570 91 0 1254
Fulgent Genetics, Fulgent Genetics 0 0 87 89 1 0 177
GeneDx 0 1 20 1 101 0 123
CeGaT Center for Human Genetics Tuebingen 0 0 37 51 13 0 101
PreventionGenetics, part of Exact Sciences 0 0 13 29 4 0 46
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 44 0 44
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 6 9 23 0 38
Ambry Genetics 0 0 32 0 0 0 32
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 19 11 0 30
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 2 14 3 0 19
Mayo Clinic Laboratories, Mayo Clinic 0 0 17 0 0 0 17
Genome-Nilou Lab 0 0 0 0 13 0 13
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 11 0 11
Baylor Genetics 0 0 9 0 0 0 9
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 9 0 9
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 3 0 5 0 8
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 7 0 0 0 7
Blueprint Genetics 0 0 6 0 0 0 6
OMIM 5 0 0 0 0 0 5
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 4 0 0 5
Revvity Omics, Revvity 0 0 4 0 0 0 4
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 4 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 2 1 0 3
Database of Curated Mutations (DoCM) 0 3 0 0 0 0 3
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 0 0 2 0 2
Centogene AG - the Rare Disease Company 0 0 2 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 1 1 0 0 2
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 1 0 2
AiLife Diagnostics, AiLife Diagnostics 0 0 2 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 2
Mendelics 0 0 0 0 1 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
Center for Precision Medicine, Vanderbilt University Medical Center 0 0 1 0 0 0 1
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 0 0 1 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Department of Medical and Molecular Genetics, Dongguan Institute of Pediatrics 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 0 0 0 1
Dept of laboratory medicine, Chungbuk National University Hospital 0 1 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 1
Molecular Genetic Pathology Unit, University Of Rochester Medical Center 0 0 0 1 0 0 1

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