ClinVar Miner

Variants in gene INF2

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 total
23 14 373 213 120 1 677

Condition and significance breakdown #

Total conditions: 14
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response total
Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease, dominant intermediate E 11 2 282 129 43 0 467
Focal segmental glomerulosclerosis 5 11 3 49 12 71 0 144
not provided 2 7 31 45 35 0 120
not specified 0 0 9 59 46 0 111
none provided 0 0 3 6 16 0 25
Charcot-Marie-Tooth disease 0 0 17 0 0 0 17
Charcot-Marie-Tooth disease, dominant intermediate E 6 3 3 0 0 0 12
Focal segmental glomerulosclerosis 0 0 1 0 1 0 2
Nephrotic syndrome 0 0 2 0 0 0 2
Chronic kidney disease 0 0 0 1 0 0 1
Corticosteroid response 0 0 0 0 0 1 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 1
Proteinuria 0 0 1 0 0 0 1
Proteinuria; Renal insufficiency; Focal segmental glomerulosclerosis; Hypertensive disorder 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response total
Invitae 11 2 282 149 46 0 490
GeneDx 0 1 18 60 57 0 136
Illumina Clinical Services Laboratory,Illumina 0 0 43 12 72 0 127
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 9 12 18 0 39
Athena Diagnostics Inc 1 1 3 1 22 0 28
PreventionGenetics, PreventionGenetics 0 0 0 3 24 0 27
Inherited Neuropathy Consortium 0 0 17 0 0 0 17
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 8 0 8 0 0 0 16
OMIM 11 0 0 0 0 0 11
Gharavi Laboratory,Columbia University 1 5 4 0 0 0 10
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 2 0 7 0 9
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 4 2 0 0 6
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 3 0 0 0 4
Institute of Human Genetics, Klinikum rechts der Isar 0 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 0 0 2
Sydney Genome Diagnostics,Children's Hospital Westmead 0 0 2 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 1 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 0 1 0 0 0 1
Blueprint Genetics 0 0 1 0 0 0 1
Genetic Testing Lab, Ashok and Rita Patel Institute of Integrated Study and Research in Biotechnology and Allied Sciences 0 0 0 0 0 1 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 0 0 1 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 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.