ClinVar Miner

Variants in gene BICD2

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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 not provided total
13 17 195 129 34 1 359

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant 7 10 177 75 18 0 285
not provided 2 5 20 46 15 0 86
not specified 0 0 5 34 1 0 39
none provided 0 0 1 4 1 0 6
Autosomal dominant distal hereditary motor neuropathy 3 0 1 0 1 0 5
Inborn genetic diseases 1 2 2 0 0 0 5
Spastic paraplegia 1 0 2 0 0 0 3
Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant 3 0 0 0 0 0 3
Charcot-Marie-Tooth disease 0 0 2 0 0 0 2
Hereditary spastic paraplegia 0 0 2 0 0 0 2
Myopathy; Pelvic girdle muscle weakness 0 1 0 0 0 0 1
Seizures; Feeding difficulties; Muscle weakness; EEG abnormality; Tapered finger; Absent speech; Open mouth; Macrocephalus; Decreased fetal movement; Cerebral cortical atrophy; Downturned corners of mouth; Recurrent fractures; Arthrogryposis multiplex congenita; Skeletal muscle atrophy 0 1 0 0 0 0 1
Spinal muscular atrophy 0 0 0 0 0 1 1
Spinal muscular atrophy, lower extremity-predominant, 2, AD 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 2 5 170 95 22 0 294
GeneDx 2 4 14 39 8 0 67
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 4 6 1 0 11
OMIM 9 0 0 0 0 0 9
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 4 3 0 0 7
Inherited Neuropathy Consortium 3 0 3 0 1 0 7
Ambry Genetics 1 2 2 0 0 0 5
Athena Diagnostics Inc 0 0 3 0 1 0 4
Baylor Genetics 0 0 3 0 0 0 3
Mendelics 0 1 0 0 2 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 0 3
Northcott Neuroscience Laboratory, ANZAC Research Institute 0 0 0 2 1 0 3
Paris Brain Institute,Inserm - ICM 1 0 2 0 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 1 0 0 0 2
Unit for Genetic & Epidemiological Research on Neurological Disorders,Instituto de Investigação e Inovação em Saúde 0 0 2 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
Institute of Human Genetics,Cologne University 1 0 0 0 0 0 1
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 1 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Institute for Genomic Medicine, Nationwide Children's Hospital 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 0 1
School of Bio-Medicine,Mongolian National University of Medical Sciences 0 1 0 0 0 0 1

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