ClinVar Miner

Variants in gene INF2

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Gene type:
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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
18 12 197 181 88 447

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 2 7 28 90 69 190
Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease, dominant intermediate E 1 0 129 15 5 150
not specified 0 0 9 59 41 107
Focal segmental glomerulosclerosis 0 0 17 37 19 73
Focal segmental glomerulosclerosis 5 11 2 8 0 4 25
Charcot-Marie-Tooth disease 0 0 17 0 0 17
Charcot-Marie-Tooth disease, dominant intermediate E 6 2 0 0 0 8
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 1
Proteinuria 0 0 1 0 0 1
Proteinuria; Renal insufficiency; Focal segmental glomerulosclerosis; Hypertension 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 1 1 129 96 46 273
GeneDx 0 1 18 60 57 136
Illumina Clinical Services Laboratory,Illumina 0 0 18 37 19 74
PreventionGenetics,PreventionGenetics 0 0 0 3 24 27
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 7 6 10 23
Athena Diagnostics Inc 1 1 3 1 15 21
Inherited Neuropathy Consortium 0 0 17 0 0 17
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 8 0 7 0 0 15
OMIM 11 0 0 0 0 11
Gharavi Laboratory,Columbia University 1 5 4 0 0 10
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 2 0 7 9
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 1 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 1 0 0 2
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 0 1 0 0 1
Blueprint Genetics 0 0 1 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 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 1

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