ClinVar Miner

Variants in gene KIF7

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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
25 8 239 144 52 395

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Acrocallosal syndrome 16 4 155 51 42 249
not provided 7 2 82 49 7 140
not specified 0 0 8 67 34 84
Macrocephaly with multiple epiphyseal dysplasia and distinctive facies 2 0 11 0 0 13
Intellectual disability 0 0 1 8 0 9
Acrocallosal syndrome; Macrocephaly with multiple epiphyseal dysplasia and distinctive facies; Hydrolethalus syndrome 2 0 0 6 0 0 6
Hydrolethalus syndrome 2 1 0 4 0 1 6
Joubert syndrome 12 2 0 0 0 0 2
KIF7-related ciliopathy spectrum disorder 0 0 2 0 0 2
Cerebellar ataxia; Spasticity; Nystagmus; Strabismus; Postaxial hand polydactyly; Postaxial foot polydactyly; Ventriculomegaly 0 1 0 0 0 1
Inborn genetic diseases 1 0 0 0 0 1
Joubert syndrome 0 0 1 0 0 1
Joubert syndrome 12/15, digenic 1 0 0 0 0 1
Nephronophthisis 0 0 0 1 0 1
Rare genetic intellectual disability 0 1 0 0 0 1
Scoliosis, isolated, susceptibility to, 1 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 5 2 68 76 25 176
Illumina Clinical Services Laboratory,Illumina 0 0 95 12 28 135
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 61 4 22 88
GeneDx 5 2 14 32 18 71
PreventionGenetics, PreventionGenetics 0 0 0 18 24 42
Genetic Services Laboratory, University of Chicago 0 0 6 20 1 27
Baylor Genetics 0 0 14 0 0 14
OMIM 8 0 1 0 0 9
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 1 8 0 9
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 4 3 0 7
Fulgent Genetics,Fulgent Genetics 0 0 6 0 0 6
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 4 2 0 6
Gharavi Laboratory,Columbia University 0 0 6 0 0 6
Institute of Medical Genetics,University of Zurich 4 1 0 0 0 5
UW Hindbrain Malformation Research Program,University of Washington 4 0 0 0 0 4
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 1 1 1 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 2 0 0 3
Department of Pathology and Laboratory Medicine,Sinai Health System 1 0 2 0 0 3
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 2 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 1
Ambry Genetics 1 0 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 0 0 1 0 1
Mendelics 0 0 0 0 1 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 1
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 1 0 0 0 0 1
Service de Génétique Moléculaire,Hôpital Robert Debré 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 1 0 0 0 0 1
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 1 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 1
Miller Scoliosis Laboratory,University of Colorado Anschutz Medical Campus 0 0 1 0 0 1
Sydney Genome Diagnostics,Children's Hospital Westmead 0 0 0 1 0 1

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