ClinVar Miner

Variants in gene IGHMBP2

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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
44 27 283 110 46 425

Condition and significance breakdown #

Total conditions: 14
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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 15 6 101 37 29 187
not specified 0 0 10 81 36 118
not provided 17 6 72 4 8 105
Spinal muscular atrophy 0 0 66 8 12 86
Autosomal dominant distal hereditary motor neuropathy 0 0 36 0 0 36
Distal spinal muscular atrophy 1 0 34 0 0 35
Spinal muscular atrophy, distal, autosomal recessive, 1 6 12 4 1 10 32
Charcot-Marie-Tooth disease 7 0 12 0 0 15
Charcot-Marie-Tooth disease, axonal, type 2S 10 6 0 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
IGHMBP2-related condition 1 0 1 0 0 2
Hyperreflexia; Failure to thrive; Respiratory distress; Ptosis; Clonus; Tachypnea; Severe muscular hypotonia 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 15 5 99 37 29 185
GeneDx 12 5 44 70 13 144
Illumina Clinical Services Laboratory,Illumina 1 0 67 8 12 88
Inherited Neuropathy Consortium 0 0 81 0 2 83
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 6 1 23 1 15 46
PreventionGenetics 0 0 0 9 21 30
Athena Diagnostics Inc 1 0 2 2 13 18
OMIM 15 0 0 0 0 15
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 0 7 3 4 15
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 1 7 9
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 1 1 3 0 0 5
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 2 0 3 0 0 5
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 5 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
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
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
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
Children's Hospital of Soochow University,Soochow University 0 1 0 0 0 1

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