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
28 18 769 310 132 1 1128

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Norman-Roberts syndrome; Epilepsy, familial temporal lobe, 7 6 4 565 201 50 1 827
not provided 2 6 163 80 71 0 309
Norman-Roberts syndrome 8 0 124 19 37 0 183
not specified 0 0 35 85 56 0 142
Familial temporal lobe epilepsy 1; Norman-Roberts syndrome; Epilepsy, familial temporal lobe, 7 0 0 29 0 0 0 29
Epilepsy, familial temporal lobe, 7 5 2 11 0 0 0 17
Lissencephaly, Recessive 0 0 11 1 2 0 14
Inborn genetic diseases 1 1 4 0 0 0 6
Lissencephaly 0 5 0 0 0 0 5
Rolandic epilepsy 5 0 0 0 0 0 5
Intellectual disability 0 0 1 3 0 0 4
Autistic disorder of childhood onset 0 0 2 0 0 0 2
Seizures 0 0 2 0 0 0 2
Arthritis, sacroiliac; Scoliosis; Arthritis; Inflammation of the large intestine; Kyphosis; Low back pain; Sacroiliac joint synovitis; Enthesitis; Synovitis 1 0 0 0 0 0 1
See cases 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 6 4 565 223 52 0 850
Illumina Clinical Services Laboratory,Illumina 0 0 123 18 37 0 178
GeneDx 2 4 27 63 69 0 165
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 98 12 27 0 137
Genetic Services Laboratory, University of Chicago 5 0 36 29 17 0 87
Athena Diagnostics Inc 0 0 19 9 27 0 55
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 31 19 0 0 51
Fulgent Genetics,Fulgent Genetics 0 0 29 0 0 0 29
PreventionGenetics, PreventionGenetics 0 0 0 4 17 0 21
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 2 6 4 0 12
Baylor Genetics 0 0 9 0 0 0 9
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 7 0 0 0 8
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 3 5 0 8
New York Genome Center 0 0 7 0 0 0 7
Ambry Genetics 1 1 4 0 0 0 6
GeneReviews 5 0 0 0 0 0 5
University of Washington Center for Mendelian Genomics, University of Washington 0 5 0 0 0 0 5
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 3 1 1 0 5
Bioinformatics Core,Luxembourg Center for Systems Biomedicine 5 0 0 0 0 0 5
OMIM 4 0 0 0 0 0 4
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 1 3 0 0 4
Integrated Genetics/Laboratory Corporation of America 0 0 2 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 2 0 0 0 2
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1
Clinical Genetics laboratory, University of Goettingen 0 0 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 0 1 0 1
Mendelics 0 0 0 0 1 0 1
Lineagen, Inc 0 0 1 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
Laboratory Genomica,Gynecology and Assisted Reproduction Hospital Malinov DM 1 0 0 0 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 of Leipzig Medical Center 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1
Human Genetics Department,Tarbiat Modares University 1 0 0 0 0 0 1

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