ClinVar Miner

Variants in gene INF2

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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 drug response not provided total
28 37 802 870 217 2 1 1680

Condition and significance breakdown #

Total conditions: 19
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Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response not provided total
Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 20 8 589 752 124 0 1 1400
not provided 5 9 106 120 117 0 0 336
Inborn genetic diseases 2 2 124 136 3 0 0 267
Focal segmental glomerulosclerosis 5 11 14 60 13 70 0 0 164
not specified 0 0 15 59 58 0 0 132
INF2-related disorder 2 1 16 45 6 0 0 70
Charcot-Marie-Tooth disease dominant intermediate E 9 6 12 1 6 0 0 33
Charcot-Marie-Tooth disease 0 0 17 0 0 0 0 17
Focal segmental glomerulosclerosis 1 0 3 5 9 0 0 17
Kidney disorder 1 2 7 3 2 0 0 15
Nephrotic syndrome 0 1 2 0 0 0 0 3
Corticosteroids response 0 0 0 0 0 2 0 2
Chronic kidney disease 0 0 0 1 0 0 0 1
Glomerulonephritis 0 0 1 0 0 0 0 1
Glomerulopathy with fibronectin deposits 2 0 0 1 0 0 0 0 1
Neuropathy, hereditary motor and sensory, type 6B 0 0 1 0 0 0 0 1
Oligohydramnios; Premature birth; Small for gestational age; Birth length less than 3rd percentile; Motor polyneuropathy; Interosseus muscle atrophy; Mixed demyelinating and axonal polyneuropathy; Progressive pes cavus 0 0 1 0 0 0 0 1
Proteinuria 0 0 1 0 0 0 0 1
Proteinuria; Renal insufficiency; Focal segmental glomerulosclerosis; Hypertensive disorder 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 63
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response not provided total
Labcorp Genetics (formerly Invitae), Labcorp 18 3 461 730 124 0 0 1336
Fulgent Genetics, Fulgent Genetics 6 5 196 79 4 0 0 290
Ambry Genetics 2 2 124 136 3 0 0 267
GeneDx 3 3 45 98 106 0 0 255
Illumina Laboratory Services, Illumina 0 0 41 12 71 0 0 124
PreventionGenetics, part of Exact Sciences 2 1 16 48 29 0 0 96
Breakthrough Genomics, Breakthrough Genomics 0 0 3 25 65 0 0 93
CeGaT Center for Human Genetics Tuebingen 0 0 19 40 5 0 0 64
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 14 18 22 0 0 54
Athena Diagnostics 1 1 3 2 23 0 0 30
Genome Diagnostics Laboratory, The Hospital for Sick Children 1 2 8 8 10 0 0 29
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 6 16 1 0 0 23
Clinical Genetics, Academic Medical Center 0 0 0 2 20 0 0 22
Mayo Clinic Laboratories, Mayo Clinic 1 0 17 0 0 0 0 18
Inherited Neuropathy Consortium 0 0 17 0 0 0 0 17
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 8 0 8 0 0 0 0 16
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 16 0 0 16
OMIM 11 0 0 0 0 0 0 11
Revvity Omics, Revvity 0 0 11 0 0 0 0 11
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 9 0 0 11
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 6 2 0 0 0 10
Gharavi Laboratory, Columbia University 1 5 4 0 0 0 0 10
Eurofins Ntd Llc (ga) 0 0 2 0 7 0 0 9
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 9 0 0 9
MVZ Medizinische Genetik Mainz 0 5 3 0 0 0 0 8
Genetic Services Laboratory, University of Chicago 0 0 1 1 4 0 0 6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 5 0 0 6
Genome-Nilou Lab 0 0 0 0 6 0 0 6
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 5 0 0 0 0 5
3billion 2 2 1 0 0 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 3 0 0 0 0 4
Yale Center for Mendelian Genomics, Yale University 2 2 0 0 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 1 0 3 0 0 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 1 0 0 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 3 0 0 0 0 0 3
MGZ Medical Genetics Center 0 1 1 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 2 0 0 0 0 2
Genetic Testing Lab, Ashok and Rita Patel Institute of Integrated Study and Research in Biotechnology and Allied Sciences 0 0 0 0 0 2 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 0 0 0 2
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 2 0 0 0 0 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 2 0 0 0 0 2
Sydney Genome Diagnostics, Children's Hospital Westmead 0 0 2 0 0 0 0 2
Genomics England Pilot Project, Genomics England 1 1 0 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 0 2 0 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 1 0 0 0 0 1
Mendelics 0 0 1 0 0 0 0 1
Blueprint Genetics 0 0 1 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 0 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 0 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 0 0 1 0 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 0 1 0 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 0 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 1 1
Eurofins-Biomnis 0 1 0 0 0 0 0 1

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