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
54 34 388 160 74 601

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 25 10 181 57 35 306
not provided 21 6 77 43 26 166
Spinal muscular atrophy, distal, autosomal recessive, 1 8 17 89 18 32 161
not specified 0 0 12 82 37 120
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 7 0 34 0 0 37
Charcot-Marie-Tooth disease, axonal, type 2S 10 5 1 0 0 15
Werdnig-Hoffmann disease 9 0 0 0 0 9
Inborn genetic diseases 2 1 1 0 0 4
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
Spinal muscular atrophy 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 42
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 25 8 180 91 37 341
GeneDx 13 5 44 75 31 168
Illumina Clinical Services Laboratory,Illumina 1 0 88 18 31 138
Inherited Neuropathy Consortium 0 1 83 0 2 86
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 6 1 23 1 15 46
PreventionGenetics,PreventionGenetics 0 0 0 9 21 30
Genesis Genome Database 0 0 26 0 0 26
Athena Diagnostics Inc 1 0 2 3 15 21
CeGaT Praxis fuer Humangenetik Tuebingen 5 0 15 1 0 21
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 8 5 6 20
OMIM 15 0 0 0 0 15
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 2 1 0 1 7 11
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
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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 2 0 0 0 2
Undiagnosed Diseases Network,NIH 1 0 1 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 0 0 2
Biochemistry Laboratory of CDMU,Chengde Medical University 1 1 0 0 0 2
Baylor Genetics 1 0 0 0 0 1
Division of Genomic Diagnostics,The 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
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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