ClinVar Miner

Variants in gene PLCG2

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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
6 3 248 150 69 463

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Familial cold autoinflammatory syndrome 3 3 0 216 102 53 374
not provided 0 0 29 61 7 96
none provided 0 0 0 2 16 18
not specified 0 0 2 3 12 17
Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated 3 0 9 0 0 12
Familial cold autoinflammatory syndrome 3; Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated 0 0 5 0 0 5
Chronic lymphocytic leukemia 0 3 0 0 0 3
Inborn genetic diseases 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 0 0 215 135 56 406
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 5 9 19 33
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 15 13 0 28
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 9 9
Baylor Genetics 1 0 6 0 0 7
Blueprint Genetics 0 0 6 0 0 6
OMIM 5 0 0 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 5 0 0 5
GeneDx 0 0 4 0 0 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 2 1 3
Database of Curated Mutations (DoCM) 0 3 0 0 0 3
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 2 2
Ambry Genetics 0 0 1 0 0 1
Mendelics 0 0 0 0 1 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 1
Center for Precision Medicine,Vanderbilt University Medical Center 0 0 1 0 0 1
New York Genome Center 0 0 1 0 0 1

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