ClinVar Miner

Variants in gene KIF5C

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Minimum submission review status: Collection method:
Minimum conflict level:
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 not provided total
5 10 78 104 64 1 254

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 3 1 38 69 62 0 172
not specified 0 0 10 20 8 0 38
Complex cortical dysplasia with other brain malformations 2 3 10 20 5 0 1 36
KIF5C-related disorder 0 0 5 18 4 0 27
Inborn genetic diseases 0 0 4 0 0 0 4
Duane retraction syndrome 0 0 2 0 0 0 2
Cortical dysplasia 0 1 0 0 0 0 1
Developmental disorder 0 0 1 0 0 0 1
Jaw-winking syndrome 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 3 1 25 76 63 0 168
Breakthrough Genomics, Breakthrough Genomics 0 0 0 12 26 0 38
PreventionGenetics, part of Exact Sciences 0 0 5 18 4 0 27
CeGaT Center for Human Genetics Tuebingen 1 0 12 8 1 0 22
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 9 5 0 0 15
Institute of Human Genetics, University of Leipzig Medical Center 1 8 0 1 0 0 10
Ambry Genetics 0 0 4 0 0 0 4
Revvity Omics, Revvity 0 0 4 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 1 0 3 0 0 0 4
Baylor Genetics 1 0 2 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 3 0 0 0 3
OMIM 2 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 1 1 0 0 2
Institute of Human Genetics, Cologne University 0 0 1 1 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 2 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 1 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 1 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 0 1
Mendelics 1 0 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 0 1 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 1 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
3billion 0 0 1 0 0 0 1
Suma Genomics 0 0 0 1 0 0 1

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