ClinVar Miner

Variants in gene KCTD7

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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 affects total
27 31 187 123 31 2 355

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign affects total
Progressive myoclonic epilepsy type 3 23 21 170 97 20 2 311
not provided 4 6 29 19 9 0 61
Inborn genetic diseases 1 3 12 12 2 0 30
not specified 0 0 6 13 10 0 25
KCTD7-related condition 0 0 2 3 0 0 5
Neuronal ceroid lipofuscinosis 1 3 0 0 0 0 4
Progressive myoclonic epilepsy 0 0 2 0 1 0 3
Epilepsy, progressive myoclonic, 3, with intracellular inclusions 2 0 0 0 0 0 2
Epileptic encephalopathy 0 2 0 0 0 0 2
Intellectual disability 0 0 0 2 0 0 2
See cases 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects total
Invitae 12 7 107 91 5 0 222
Illumina Laboratory Services, Illumina 0 0 63 6 18 0 87
GeneDx 4 5 21 20 17 0 67
Ambry Genetics 1 3 12 12 2 0 30
OMIM 9 0 0 0 0 0 9
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 3 4 1 0 0 9
Eurofins Ntd Llc (ga) 0 0 7 0 2 0 9
PreventionGenetics, part of Exact Sciences 0 0 2 3 3 0 8
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 4 2 0 7
Revvity Omics, Revvity 0 2 3 0 0 0 5
CeGaT Center for Human Genetics Tuebingen 1 1 0 3 0 0 5
Athena Diagnostics Inc 0 0 1 2 1 0 4
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 2 1 0 0 0 4
Genetic Services Laboratory, University of Chicago 0 0 1 2 0 0 3
Baylor Genetics 0 0 2 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 0 0 2
Mendelics 2 0 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 0 0 0 0 2
Gene Discovery Core-Manton Center, Boston Children's Hospital 0 2 0 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 2 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 0 0 0 2
Undiagnosed Diseases Network, NIH 0 2 0 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 0 0 2
IRCCS Fondazione Stella Maris, University of Pisa 0 2 0 0 0 0 2
Children’s Center Hospital, Tehran University of Medical Sciences 0 0 0 0 0 2 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 1 0 0 0 2
Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences 0 2 0 0 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 1 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 0 1
New York Genome Center 0 1 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
3billion 0 0 1 0 0 0 1

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