ClinVar Miner

Variants in gene TCIRG1

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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 not provided total
150 130 492 773 48 1 1430

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 133 37 325 757 46 0 1267
Autosomal recessive osteopetrosis 1 52 109 207 26 16 1 374
Inborn genetic diseases 1 0 70 1 0 0 72
TCIRG1-related condition 3 2 6 31 1 0 43
Osteopetrosis 6 2 2 1 0 0 11
not specified 0 0 1 1 10 0 11
Increased bone mineral density 0 0 1 0 2 0 3
Neutropenia, severe congenital, 1, autosomal dominant 1 0 1 0 0 0 2
Abnormality of the skeletal system 0 1 0 0 0 0 1
Autosomal recessive osteopetrosis 0 1 0 0 0 0 1
Chorea-acanthocytosis 0 1 0 0 0 0 1
Congenital neutropenia 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 54
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 131 31 289 752 39 0 1242
Natera, Inc. 9 3 96 17 13 0 138
Illumina Laboratory Services, Illumina 1 0 77 8 9 0 95
Baylor Genetics 34 57 2 0 0 0 93
Ambry Genetics 1 0 70 1 0 0 72
Counsyl 8 32 27 1 0 0 68
PreventionGenetics, part of Exact Sciences 3 2 6 31 1 0 43
Fulgent Genetics, Fulgent Genetics 6 5 25 2 0 0 38
Eurofins Ntd Llc (ga) 2 0 23 0 8 0 33
GeneDx 3 4 9 0 7 0 23
CeGaT Center for Human Genetics Tuebingen 2 1 9 11 0 0 23
Molecular Lab, Department of Haematology, Christian Medical College 13 0 1 0 0 0 14
Myriad Genetics, Inc. 1 10 1 0 0 0 12
Revvity Omics, Revvity 4 3 4 0 0 0 11
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 6 2 1 1 1 0 11
OMIM 7 0 1 0 0 0 8
Genome-Nilou Lab 0 0 2 1 5 0 8
3billion 3 3 2 0 0 0 8
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 2 3 1 0 7
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 1 4 0 6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 0 0 3 0 5
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 4 0 0 0 4
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 3 1 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 1 2 1 0 0 0 4
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 0 1 0 2 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 1 0 2 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 2 0 0 0 3
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 2 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 1 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 0 0 0 2
Hadassah Hebrew University Medical Center 0 2 0 0 0 0 2
Hereditary Research Laboratory, Bethlehem University 1 0 1 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 0 0 0 0 0 2
Center for Molecular Medicine, Children’s Hospital of Fudan University 2 0 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 1 0 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 1 0 1 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 2 0 0 0 2
Mendelics 1 0 0 0 0 0 1
University of Washington School of Medicine 1 0 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 0 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 1 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 1 0 0 0 0 0 1
Pars Genome Lab 0 0 0 0 1 0 1
DASA 1 0 0 0 0 0 1
Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska" 1 0 0 0 0 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 0 1 0 0 0 1

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