ClinVar Miner

Variants in gene RELN

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Gene type:
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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
21 6 302 143 71 1 436

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Lissencephaly 2; Epilepsy, familial temporal lobe, 7 0 0 116 53 45 1 215
not provided 2 5 141 16 18 0 177
not specified 0 0 37 91 51 0 140
Lissencephaly, Recessive 0 0 62 21 6 0 89
Epilepsy, lateral temporal lobe, autosomal dominant; Lissencephaly 2; Epilepsy, familial temporal lobe, 7 0 0 29 0 0 0 29
Lissencephaly 2 8 0 3 3 5 0 18
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

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 0 0 116 53 45 0 214
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 98 12 27 0 137
GeneDx 2 4 27 53 23 0 109
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 15 0 42
Fulgent Genetics 0 0 29 0 0 0 29
PreventionGenetics 0 0 0 4 17 0 21
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 9 6 0 0 15
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
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

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