ClinVar Miner

Variants in gene NRXN1

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Minimum submission review status: Collection method:
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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 risk factor not provided total
55 22 425 293 129 1 2 817

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
not provided 7 19 167 141 80 0 0 375
not specified 0 0 48 138 60 0 0 218
Pitt-Hopkins-like syndrome 2 10 2 131 14 1 0 0 157
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
Inborn genetic diseases 0 0 2 0 0 0 0 2
Schizophrenia 17 1 0 0 0 0 1 0 2
Autism spectrum disorder 0 0 1 0 0 0 0 1
Gestational diabetes mellitus uncontrolled 0 0 0 0 0 0 1 1
Intellectual disability 1 0 0 0 0 0 0 1
NRXN-Related Disorder 0 0 0 0 0 0 1 1
Neurodevelopmental disorder 0 0 1 0 0 0 0 1
Obesity 0 1 0 0 0 0 0 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: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
GeneDx 8 8 107 145 97 0 0 365
Invitae 6 2 125 129 25 0 0 287
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
Athena Diagnostics Inc 0 0 4 5 8 0 0 17
Fulgent Genetics,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
CeGaT Praxis fuer Humangenetik Tuebingen 0 3 10 0 0 0 0 13
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 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
OMIM 4 0 0 0 0 1 0 5
PreventionGenetics,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
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 0 2 0 0 0 0 3
Lineagen Inc. 0 0 2 0 0 0 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 2 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, 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
Undiagnosed Diseases Network,NIH 0 0 2 0 0 0 0 2
Baylor Genetics 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
Geschwind lab,University of California Los Angeles 0 0 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 1 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 0 1 0 0 0 0 1
Dash Lab,University Health Network 0 1 0 0 0 0 0 1

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