ClinVar Miner

Variants in gene NRXN1

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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 risk factor not provided total
153 46 1241 827 198 1 6 2276

Condition and significance breakdown #

Total conditions: 27
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Pitt-Hopkins-like syndrome 2 50 19 961 624 58 0 1 1675
not provided 46 28 303 195 115 0 1 652
Inborn genetic diseases 1 0 120 82 5 0 0 208
not specified 19 0 53 100 60 0 0 208
See cases 27 1 7 15 5 0 0 55
NRXN1-related condition 0 1 12 33 6 0 0 52
Pitt-Hopkins-like syndrome 2; Chromosome 2p16.3 deletion syndrome 0 0 27 6 0 0 1 33
Pitt-Hopkins-like syndrome 0 0 30 1 1 0 0 32
History of neurodevelopmental disorder 0 0 1 8 1 0 0 10
Intellectual disability 1 0 4 4 0 0 0 9
Autism spectrum disorder 3 0 3 1 0 0 0 7
Chromosome 2p16.3 deletion syndrome 1 0 1 0 0 0 0 2
Autism; Hyperopia, high; Intellectual disability, mild; Moderate global developmental delay; Mild microcephaly 1 0 0 0 0 0 0 1
Delayed speech and language development 1 0 0 0 0 0 0 1
Gestational diabetes mellitus uncontrolled 0 0 0 0 0 0 1 1
Global developmental delay; Atypical behavior 1 0 0 0 0 0 0 1
Motor delay; Functional abnormality of the bladder 1 0 0 0 0 0 0 1
Motor development delay 1 0 0 0 0 0 0 1
NRXN-Related Disorder 0 0 0 0 0 0 1 1
NRXN1-related Complex neurodevelopmental disorder 0 0 1 0 0 0 0 1
NRXN1-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
Schizophrenia 17 0 0 0 0 0 1 0 1
del2p16.3 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 63
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 41 14 827 614 41 0 0 1537
GeneDx 9 13 199 239 154 0 0 614
Ambry Genetics 1 0 121 90 6 0 0 218
Illumina Laboratory Services, Illumina 2 1 165 16 28 0 0 212
Eurofins Ntd Llc (ga) 1 0 66 5 12 0 0 84
Quest Diagnostics Nichols Institute San Juan Capistrano 39 8 24 0 0 0 0 71
Genetic Services Laboratory, University of Chicago 0 0 42 22 2 0 0 66
CeGaT Center for Human Genetics Tuebingen 0 2 22 38 1 0 0 63
PreventionGenetics, part of Exact Sciences 0 1 12 33 10 0 0 56
Fulgent Genetics, Fulgent Genetics 0 0 22 5 0 0 0 27
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 19 0 2 0 0 0 0 21
Athena Diagnostics Inc 0 0 4 4 11 0 0 19
ISCA site 1 15 1 3 0 0 0 0 19
Revvity Omics, Revvity 1 3 13 0 0 0 0 17
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 1 2 0 11 0 0 14
ISCA Site 6 4 0 0 4 2 0 0 10
Baylor Genetics 0 0 9 0 0 0 0 9
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 1 1 7 0 0 0 9
Mayo Clinic Laboratories, Mayo Clinic 0 0 8 0 0 0 0 8
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 7 1 0 0 0 8
ISCA site 4 0 0 1 6 0 0 0 7
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 2 5 0 0 0 7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 4 0 0 0 0 6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 1 4 0 0 0 6
OMIM 4 0 0 0 0 1 0 5
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 4 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 3 1 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 0 4 4
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 2 0 1 1 0 0 0 4
New York Genome Center 0 1 3 0 0 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 2 0 0 3
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 2 0 0 0 0 3
Medical Genetics Laboratory, CHRU Nancy 3 0 0 0 0 0 0 3
Cytogenetics, Genetics Associates, Inc. 2 0 1 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 2 0 0 0 0 2
Bionano Laboratories 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
Genetics and Molecular Pathology, SA Pathology 1 0 1 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 1 0 0 0 0 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 2 0 0 0 2
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 1 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 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 Laboratory, University of Washington 1 0 0 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 0 1
Diagnostic Laboratory, Strasbourg University Hospital 0 0 1 0 0 0 0 1
Geschwind lab, University of California Los Angeles 0 0 1 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 0 1
Rare Disease Group, Clinical Genetics, Karolinska Institutet 0 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 0 1
Dash Lab, University Health Network 0 1 0 0 0 0 0 1
Breda Genetics srl 0 1 0 0 0 0 0 1
Genetics Department, Polish Mother's Memorial Hospital Research Institute 0 0 1 0 0 0 0 1
GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies 0 0 0 0 0 0 1 1
Medicover Genetics GmbH, Medicover Humangenetik Berlin-Lichtenberg MVZ 1 0 0 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 1 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 0 1 0 0 0 0 1

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