ClinVar Miner

Variants in gene KIF4A

Minimum submission review status: Collection method:
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Gene type:
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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
7 2 150 27 15 1 195

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 0 0 75 14 12 1 102
not specified 0 0 65 5 1 0 71
Intellectual disability, X-linked 100 5 1 14 1 5 0 26
KIF4A-related disorder 0 0 6 10 5 0 21
Taurodontism, microdontia, and dens invaginatus 2 0 0 0 0 0 2
Congenital cerebellar hypoplasia 0 1 0 0 0 0 1
Corpus callosum, agenesis of; Multicystic kidney dysplasia; Intellectual disability, X-linked 100; Hydrocephalus; Ventriculomegaly 0 1 0 0 0 0 1
Obesity; Sleep abnormality; Pes planus; Delayed speech and language development; Horizontal nystagmus; Gynecomastia; Generalized hypotonia; Poor motor coordination; Difficulty walking; Hypotonia 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Ambry Genetics 0 0 58 2 0 0 60
GeneDx 0 0 53 1 0 0 54
PreventionGenetics, part of Exact Sciences 0 0 6 10 5 0 21
CeGaT Center for Human Genetics Tuebingen 0 0 11 6 0 0 17
Labcorp Genetics (formerly Invitae), Labcorp 0 0 0 9 7 0 16
Breakthrough Genomics, Breakthrough Genomics 0 0 0 0 9 0 9
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 7 1 0 0 8
OMIM 7 0 0 0 0 0 7
Baylor Genetics 0 0 5 0 0 0 5
Genome-Nilou Lab 0 0 0 0 5 0 5
Revvity Omics, Revvity 0 0 3 0 0 0 3
Eurofins Ntd Llc (ga) 0 0 3 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 2 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 1 0 1 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 0 1 0 2
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 2 0 0 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 2 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 0 0 2
Mendelics 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 0 1 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 0 1 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
Dobyns Lab, Seattle Children's Research Institute 0 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Medical Genetics Clinic, University of Catania 0 1 0 0 0 0 1

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