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
11 8 105 58 20 1 189

Condition and significance breakdown #

Total conditions: 11
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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 6 3 86 20 11 0 125
not provided 2 4 18 10 9 0 43
not specified 0 0 5 34 1 0 39
Autosomal dominant distal hereditary motor neuropathy 3 0 1 0 1 0 5
Inborn genetic diseases 0 1 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
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: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 1 2 82 20 11 0 116
GeneDx 2 4 14 39 8 0 67
OMIM 9 0 0 0 0 0 9
Inherited Neuropathy Consortium 3 0 3 0 1 0 7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 3 2 0 0 5
Athena Diagnostics Inc 0 0 3 0 1 0 4
Ambry Genetics 0 1 2 0 0 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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 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
Baylor Miraca Genetics Laboratories, 0 0 1 0 0 0 1
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
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 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

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