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
22 6 350 232 123 1 610

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 2 5 155 146 104 0 367
Lissencephaly 2; Epilepsy, familial temporal lobe, 7 0 0 162 18 6 1 187
not specified 0 0 36 90 51 0 140
Lissencephaly, Recessive 0 0 62 21 6 0 89
Familial temporal lobe epilepsy 1; Lissencephaly 2; Epilepsy, familial temporal lobe, 7 0 0 29 0 0 0 29
Lissencephaly 2 8 0 3 3 6 0 19
Epilepsy, familial temporal lobe, 7 5 0 2 0 0 0 7
Inborn genetic diseases 1 1 4 0 0 0 6
Rolandic epilepsy 5 0 0 0 0 0 5
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: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 0 0 162 137 52 0 351
GeneDx 2 4 27 63 69 0 165
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 98 12 27 0 137
Illumina Clinical Services Laboratory,Illumina 0 0 62 21 6 0 89
Genetic Services Laboratory, University of Chicago 5 0 38 32 12 0 87
Athena Diagnostics Inc 0 0 17 10 21 0 48
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 24 12 0 0 36
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
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 3 5 0 8
Ambry Genetics 1 1 4 0 0 0 6
GeneReviews 5 0 0 0 0 0 5
Bioinformatics Core,Luxembourg Center for Systems Biomedicine 5 0 0 0 0 0 5
OMIM 4 0 0 0 0 0 4
Mayo Clinic Genetic Testing 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
Institute of Human Genetics,University of Goettingen 0 0 1 0 0 0 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 0 1 0 1
Integrated Genetics/Laboratory Corporation of America 0 0 1 0 0 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
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1
Human Genetics Department,Tarbiat Modares University 1 0 0 0 0 0 1

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