ClinVar Miner

Variants in gene IGHMBP2

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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 total
67 42 489 212 79 752

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 39 14 266 110 35 462
Spinal muscular atrophy, distal, autosomal recessive, 1 17 18 92 18 32 173
not provided 22 6 79 46 26 171
Charcot-Marie-Tooth disease 8 3 74 50 29 159
not specified 0 0 11 82 37 119
Distal spinal muscular atrophy 2 1 35 0 0 38
Autosomal dominant distal hereditary motor neuropathy 0 0 37 0 0 37
Charcot-Marie-Tooth disease, axonal, type 2S 12 5 5 0 0 21
none provided 0 0 4 2 11 17
Inborn genetic diseases 2 1 1 0 0 4
Spinal muscular atrophy 1 1 1 0 0 3
Hammertoe; Difficulty walking; Inability to walk; Progressive muscle weakness; Lower limb muscle weakness 0 2 0 0 0 2
Autosomal dominant intermediate Charcot-Marie-Tooth disease 0 0 1 0 0 1
Charcot-Marie-Tooth disease type 4 0 0 1 0 0 1
Charcot-Marie-Tooth disease, type I 0 0 1 0 0 1
Hyperreflexia; Failure to thrive; Respiratory distress; Ptosis; Clonus; Tachypnea; Severe muscular hypotonia 1 0 0 0 0 1
IGHMBP2-related neuronopathy 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 46
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 39 12 265 131 37 484
GeneDx 13 5 44 75 31 168
Illumina Clinical Services Laboratory,Illumina 1 0 88 18 31 138
Molecular Genetics Laboratory,London Health Sciences Centre 1 3 42 50 29 125
Inherited Neuropathy Consortium 0 1 83 0 2 86
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 6 1 23 1 15 46
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 0 11 6 14 32
PreventionGenetics, PreventionGenetics 0 0 0 9 21 30
CeGaT Praxis fuer Humangenetik Tuebingen 6 0 17 4 0 27
Genesis Genome Database 0 0 26 0 0 26
Athena Diagnostics Inc 1 0 3 3 15 22
OMIM 15 0 0 0 0 15
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 1 0 1 7 11
Baylor Genetics 5 0 5 0 0 10
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 8 8
GeneReviews 7 0 0 0 0 7
Service de Pédiatrie - Neurologie et infectiologie - Toulouse,CHU de Toulouse - Hôpital des Enfants 0 3 3 0 0 6
Fulgent Genetics,Fulgent Genetics 1 1 3 0 0 5
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 2 0 3 0 0 5
Ambry Genetics 2 1 1 0 0 4
Institute of Human Genetics,Cologne University 2 1 1 0 0 4
Department of Medical Genetics, Oslo University Hospital 0 4 0 0 0 4
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 3 1 0 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 3 0 0 0 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 3 0 0 0 4
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 1 0 1 1 3
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 0 2 0 0 2
Mendelics 1 1 0 0 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 2 0 0 0 0 2
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 2 0 0 0 2
Undiagnosed Diseases Network,NIH 1 0 1 0 0 2
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 1 0 1 0 0 2
Biochemistry Laboratory of CDMU,Chengde Medical University 1 1 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 1 0 0 1
Integrated Genetics/Laboratory Corporation of America 1 0 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 0 1 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 1 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 0 0 1
Children's Hospital of Soochow University,Soochow University 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 1 0 0 0 1
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 0 1 0 0 0 1

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