ClinVar Miner

Variants in gene ANK3

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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
12 10 669 452 109 3 1148

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 4 4 479 381 92 2 925
not specified 0 0 93 55 11 0 156
Inborn genetic diseases 1 0 128 17 0 0 146
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome 5 4 73 4 14 1 99
ANK3-related condition 0 0 13 37 28 0 78
Intellectual disability 0 0 2 8 0 0 10
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
ANK3-related disorder 1 0 0 0 0 0 1
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
Global developmental delay 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 50
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 2 0 390 332 85 0 809
Ambry Genetics 1 0 128 17 0 0 146
Genetic Services Laboratory, University of Chicago 0 0 86 52 7 0 145
CeGaT Center for Human Genetics Tuebingen 1 1 41 70 5 0 118
PreventionGenetics, part of Exact Sciences 0 0 13 37 28 0 78
GeneDx 0 2 65 3 2 0 72
Fulgent Genetics, Fulgent Genetics 0 0 22 3 0 0 25
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
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 2 6 0 0 8
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 0 0 6 0 6
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 3 0 3 0 6
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 6 0 0 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
OMIM 2 0 2 0 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 2 1 0 0 4
Eurofins Ntd Llc (ga) 0 0 3 1 0 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 2 1 1 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 1 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 1 0 0 3
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
Daryl Scott Lab, Baylor College of Medicine 0 0 2 0 0 0 2
Undiagnosed Diseases Network, NIH 2 0 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 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
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
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
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
DECIPHERD-UDD, Universidad del Desarrollo 0 0 1 0 0 0 1

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