ClinVar Miner

Variants in gene ANK3

See also:
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
14 17 933 525 105 3 1466

Condition and significance breakdown #

Total conditions: 14
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 7 8 635 430 96 2 1133
Inborn genetic diseases 1 0 263 45 0 0 309
not specified 0 0 96 56 11 0 160
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome 5 7 102 8 14 1 133
ANK3-related disorder 1 0 17 38 28 0 84
Intellectual disability 0 0 1 8 0 0 9
ANK3-related neurodevelopmental disorder 0 0 2 0 0 0 2
Intellectual disability, autosomal recessive 66 0 0 2 0 0 0 2
See cases 0 0 1 1 0 0 2
Abnormal brain morphology 0 1 0 0 0 0 1
Abnormality of the nervous system 0 1 0 0 0 0 1
Autism 0 0 1 0 0 0 1
Classic medulloblastoma 1 0 0 0 0 0 1
Complex neurodevelopmental disorder 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 62
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 2 0 447 369 87 0 905
Ambry Genetics 1 0 263 45 0 0 309
GeneDx 3 6 169 3 2 0 183
CeGaT Center for Human Genetics Tuebingen 1 1 63 88 5 0 158
Genetic Services Laboratory, University of Chicago 0 0 86 52 7 0 145
PreventionGenetics, part of Exact Sciences 0 0 15 38 28 0 81
Breakthrough Genomics, Breakthrough Genomics 0 0 8 20 48 0 76
Fulgent Genetics, Fulgent Genetics 0 0 34 3 0 0 37
New York Genome Center 0 0 15 0 0 0 15
Revvity Omics, Revvity 0 1 12 0 0 0 13
Genome-Nilou Lab 0 0 0 0 13 0 13
Baylor Genetics 0 0 12 0 0 0 12
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 1 8 0 0 9
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 5 2 0 0 8
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 2 6 0 0 8
Neuberg Centre For Genomic Medicine, NCGM 0 0 8 0 0 0 8
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 4 0 0 0 6
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 3 0 3 0 6
Mendelics 1 0 1 1 2 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 5 0 0 0 5
Department of Human Genetics, Hannover Medical School 0 1 4 0 0 0 5
OMIM 2 0 2 0 0 0 4
Eurofins Ntd Llc (ga) 0 0 3 1 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 4 0 0 0 4
Daryl Scott Lab, Baylor College of Medicine 0 0 4 0 0 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 2 1 1 0 4
3billion 0 0 0 4 0 0 4
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 3 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 1 0 0 3
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
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 2 0 0 0 2
Undiagnosed Diseases Network, NIH 1 1 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 2 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 2 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 0 2 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 2 2
MVZ Medizinische Genetik Mainz 0 1 1 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 0 1 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 1 0 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 1 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 0 1 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Laboratory of Neurooncology, Almazov National Medical Research Centre 1 0 0 0 0 0 1
Medical Genetics Clinic, University of Catania 0 0 1 0 0 0 1
DECIPHERD-UDD, Universidad del Desarrollo 0 0 1 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.