ClinVar Miner

Variants in gene combination LOC101927870, RELN

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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 total
6 4 202 92 33 306

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Norman-Roberts syndrome; Epilepsy, familial temporal lobe, 7 0 0 135 52 12 199
not provided 0 0 40 27 14 79
Norman-Roberts syndrome 0 1 34 5 15 55
not specified 0 0 10 22 14 39
Epilepsy, familial temporal lobe, 7 2 1 6 0 0 9
Familial temporal lobe epilepsy 1; Norman-Roberts syndrome; Epilepsy, familial temporal lobe, 7 0 0 3 0 0 3
Lissencephaly, Recessive 0 0 3 0 0 3
Rolandic epilepsy 3 0 0 0 0 3
Seizures 0 0 2 0 0 2
Abnormality of neuronal migration 1 0 0 0 0 1
Intellectual disability 0 0 1 0 0 1
Lissencephaly 0 1 0 0 0 1
Schizophrenia 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 0 0 135 62 12 209
Illumina Clinical Services Laboratory,Illumina 0 0 37 5 14 56
GeneDx 0 0 5 21 18 44
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 32 1 9 42
Genetic Services Laboratory, University of Chicago 0 0 7 10 0 17
PreventionGenetics, PreventionGenetics 0 0 0 4 5 9
Athena Diagnostics Inc 0 0 3 0 4 7
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 4 2 0 6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 5 6
Fulgent Genetics,Fulgent Genetics 0 0 3 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 3 0 0 3
Bioinformatics Core,Luxembourg Center for Systems Biomedicine 3 0 0 0 0 3
OMIM 2 0 0 0 0 2
Baylor Genetics 0 0 2 0 0 2
GeneReviews 2 0 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 1 0 2
New York Genome Center 0 0 2 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 1 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 1
Department of Psychiatry,Nagoya University 0 1 0 0 0 1
Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire 1 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 1
Diagnostic Laboratory, Strasbourg University Hospital 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 1

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