ClinVar Miner

Variants in gene NRXN1

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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 risk factor not provided total
52 19 397 210 85 1 2 678

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
not specified 0 0 49 138 60 0 0 219
not provided 7 17 162 5 12 0 0 201
Pitt-Hopkins-like syndrome 2 7 1 85 48 20 0 0 160
Pitt-Hopkins-like syndrome 0 0 119 9 8 0 0 136
History of neurodevelopmental disorder 0 0 35 44 6 0 0 85
See cases 36 1 5 15 5 0 0 62
Pitt-Hopkins-like syndrome 2; Schizophrenia 17 0 0 19 0 0 0 0 19
Autism spectrum disorder 0 0 7 0 0 0 0 7
Inborn genetic diseases 0 0 2 0 0 0 0 2
Schizophrenia 17 1 0 0 0 0 1 0 2
Gestational diabetes mellitus uncontrolled 0 0 0 0 0 0 1 1
NRXN-Related Disorder 0 0 0 0 0 0 1 1
Ovarian dysgenesis 3 0 0 0 1 0 0 0 1
Schizophrenia 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
GeneDx 8 8 107 123 57 0 0 303
Invitae 3 1 78 46 20 0 0 148
Illumina Clinical Services Laboratory,Illumina 0 0 120 9 8 0 0 137
Ambry Genetics 0 0 37 44 6 0 0 87
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 66 5 12 0 0 84
Genetic Services Laboratory, University of Chicago 0 0 41 20 2 0 0 63
ISCA site 1 15 1 3 0 0 0 0 19
Fulgent Genetics 0 0 16 0 0 0 0 16
Quest Diagnostics Nichols Institute San Juan Capistrano 4 6 4 0 0 0 0 14
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 1 2 0 11 0 0 14
Athena Diagnostics Inc 0 0 4 5 2 0 0 11
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories, Inc. 10 0 1 0 0 0 0 11
ISCA site 6 4 0 0 4 2 0 0 10
ISCA site 4 0 0 1 6 0 0 0 7
Geschwind lab,University of California Los Angeles 0 0 7 0 0 0 0 7
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 5 0 0 0 0 6
OMIM 4 0 0 0 0 1 0 5
PreventionGenetics 0 0 0 1 4 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 0 0 0 4
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 2 0 0 0 0 2
HudsonAlpha Institute for Biotechnology 0 0 0 2 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 1 0 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 2 0 0 0 0 2
Undiagnosed Diseases Network,NIH 0 0 2 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 1 1 0 0 0 0 0 2
Baylor Miraca Genetics Laboratories, 0 0 1 0 0 0 0 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 0 0 0 0 1
Department of Psychiatry,Nagoya University 1 0 0 0 0 0 0 1
Institute of Molecular and Cell Biology, University of Tartu 0 0 0 0 0 0 1 1
Cytogenetics and Genomics Laboratory,University of Washington 1 0 0 0 0 0 0 1
Centre de Biologie Pathologie Génétique,Centre Hospitalier Universitaire de Lille 0 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1

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