ClinVar Miner

Variants in gene RELN

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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
62 36 1554 1344 305 8 2959

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 37 14 1088 1125 155 2 2412
not provided 4 12 316 221 178 1 682
Inborn genetic diseases 1 1 209 10 0 0 221
Norman-Roberts syndrome 11 4 146 20 42 0 218
not specified 0 0 70 90 67 0 194
RELN-related disorder 0 0 27 49 14 0 90
Epilepsy, familial temporal lobe, 1; Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 0 0 44 15 3 0 62
Familial temporal lobe epilepsy 7 3 2 29 0 0 5 36
Lissencephaly, Recessive 0 0 11 0 2 0 13
See cases 0 0 6 0 0 0 6
Lissencephaly 0 5 0 0 0 0 5
Self-limited epilepsy with centrotemporal spikes 5 0 0 0 0 0 5
Intellectual disability 0 0 1 3 0 0 4
Seizure 0 0 1 1 0 0 2
Neurodevelopmental disorder 0 0 0 1 0 0 1
Sacroiliac arthritis; Scoliosis; Arthritis; Inflammation of the large intestine; Kyphosis; Low back pain; Sacroiliac joint synovitis; Enthesitis; Synovitis 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 70
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 37 14 1076 1128 157 0 2412
GeneDx 2 7 135 154 176 0 474
Ambry Genetics 1 1 209 10 0 0 221
Illumina Laboratory Services, Illumina 0 0 121 16 37 0 174
CeGaT Center for Human Genetics Tuebingen 1 2 74 84 10 0 171
Eurofins Ntd Llc (ga) 0 0 96 11 26 0 133
PreventionGenetics, part of Exact Sciences 0 0 27 53 31 0 111
Breakthrough Genomics, Breakthrough Genomics 0 0 5 36 64 0 105
Genetic Services Laboratory, University of Chicago 6 0 44 32 18 0 100
Fulgent Genetics, Fulgent Genetics 0 0 48 15 3 0 66
Athena Diagnostics 0 0 18 10 26 0 54
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 29 18 2 0 50
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 2 16 23 0 41
Clinical Genetics, Academic Medical Center 0 0 0 6 29 0 35
Revvity Omics, Revvity 1 1 18 0 0 0 20
New York Genome Center 0 0 17 0 0 0 17
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 13 3 0 16
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 6 5 0 12
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 10 1 1 0 12
Mayo Clinic Laboratories, Mayo Clinic 0 0 11 0 0 0 11
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 2 6 1 1 0 11
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 2 5 4 0 11
Baylor Genetics 0 0 10 0 0 0 10
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 3 5 0 9
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 7 0 0 0 8
Genome-Nilou Lab 0 0 0 0 8 0 8
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 6 0 0 7
GeneReviews 0 0 0 0 0 5 5
University of Washington Center for Mendelian Genomics, University of Washington 0 5 0 0 0 0 5
Bioinformatics Core, Luxembourg Center for Systems Biomedicine 5 0 0 0 0 0 5
AiLife Diagnostics, AiLife Diagnostics 0 1 4 0 0 0 5
OMIM 4 0 0 0 0 0 4
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 1 3 0 0 0 4
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 1 3 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 4 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 2 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 0 3 0 0 0 3
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 3 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 1 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 2 0 0 0 2
Diagnostic Laboratory, Strasbourg University Hospital 0 0 1 1 0 0 2
Institute of Human Genetics, University Hospital Muenster 0 0 2 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 2 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 1 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 0 1 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Bionano Laboratories 0 0 1 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 0 1 0 0 0 1
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM 1 0 0 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 1 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 0 1
Human Genetics Department, Tarbiat Modares University 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 0 1
Istanbul Faculty of Medicine, Istanbul University 1 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
3billion 0 0 0 1 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Center of Human Genetics, Hôpital Erasme 0 1 0 0 0 0 1

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