ClinVar Miner

Variants in gene RELN

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
69 39 1694 1427 312 41 3209

Condition and significance breakdown #

Total conditions: 38
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 44 15 1169 1200 161 2 2582
not provided 4 13 359 238 180 1 738
Inborn genetic diseases 1 1 292 16 0 0 310
not specified 0 0 81 103 76 0 223
Norman-Roberts syndrome 12 4 147 20 42 0 220
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 3 30 0 0 5 38
See cases 0 0 6 0 0 0 6
Familial cancer of breast 0 0 0 0 0 5 5
Gastric cancer 0 0 0 0 0 5 5
Intellectual disability 0 0 1 4 0 0 5
Lissencephaly 0 5 0 0 0 0 5
Self-limited epilepsy with centrotemporal spikes 5 0 0 0 0 0 5
Lung cancer 0 0 0 0 0 3 3
Malignant tumor of esophagus 0 0 0 0 0 3 3
Melanoma 0 0 0 0 0 3 3
Ovarian serous cystadenocarcinoma 0 0 0 0 0 3 3
Papillary renal cell carcinoma type 1 0 0 0 0 0 3 3
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 3 3
Uterine corpus endometrial carcinoma 0 0 0 0 0 3 3
Cholangiocarcinoma 0 0 0 0 0 2 2
Seizure 0 0 1 1 0 0 2
Acute myeloid leukemia 0 0 0 0 0 1 1
Clear cell carcinoma of kidney 0 0 0 0 0 1 1
Colon adenocarcinoma 0 0 0 0 0 1 1
Epilepsy 0 0 1 0 0 0 1
Familial pancreatic carcinoma 0 0 0 0 0 1 1
Hepatocellular carcinoma 0 0 0 0 0 1 1
Lymphoma 0 0 0 0 0 1 1
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 1 1
Neurodevelopmental disorder 0 0 0 1 0 0 1
Nonpapillary renal cell carcinoma 0 0 0 0 0 1 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
Sarcoma 0 0 0 0 0 1 1
Thymoma 0 0 0 0 0 1 1
Uterine carcinosarcoma 0 0 0 0 0 1 1
Uveal melanoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 77
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 44 15 1156 1202 162 0 2579
GeneDx 2 7 162 154 176 0 501
Ambry Genetics 1 1 292 16 0 0 310
CeGaT Center for Human Genetics Tuebingen 1 2 95 101 12 0 211
Illumina Laboratory Services, Illumina 0 0 110 16 35 0 161
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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 41 25 3 0 70
Fulgent Genetics, Fulgent Genetics 0 0 48 15 3 0 66
Athena Diagnostics 0 0 17 10 33 0 60
Mayo Clinic Laboratories, Mayo Clinic 0 0 14 5 37 0 56
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
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 33 33
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 2 7 6 0 15
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 2 6 4 1 0 14
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 10 1 1 0 12
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
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 1 0 5 3 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
AiLife Diagnostics, AiLife Diagnostics 0 1 4 0 0 0 5
Bioinformatics Core, Luxembourg Center for Systems Biomedicine 5 0 0 0 0 0 5
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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 0 0 4
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 1 3 0 0 4
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 1 3 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 4 0 0 0 4
OMIM 4 0 0 0 0 0 4
Dubai Health Genomic Medicine Center, Dubai Health 0 0 3 0 0 0 3
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
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 1 1 0 0 2
Centre of Medical Genetics, University Hospital Muenster 0 0 2 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 2 0 0 0 2
Diagnostic Laboratory, Strasbourg University Hospital 0 0 1 1 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 2 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 2 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 2 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 1 0 0 2
3billion 0 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Bionano Laboratories 0 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 1 0 0 0 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 0 1 0 0 0 1
Center of Human Genetics, Hôpital Erasme 0 1 0 0 0 0 1
Clinical Genomic Analysis (GENYSIS) Core, University of North Carolina at Chapel Hill 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 0 1
Dasa 0 0 0 1 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 0 1 0 1
Human Genetics Department, Tarbiat Modares University 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Istanbul Faculty of Medicine, Istanbul University 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
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM 1 0 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 1 0 0 1
MVZ Martinsried, Medicover Genetics 0 0 1 0 0 0 1
Mendelics 0 0 0 0 1 0 1
OLLIN Analises Genomicas, OLLIN 0 1 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 1
Variantyx, Inc. 1 0 0 0 0 0 1

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