ClinVar Miner

Variants in gene IFIH1

See also:
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 likely risk allele risk factor not provided total
37 31 939 593 103 2 2 6 1582

Condition and significance breakdown #

Total conditions: 23
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele risk factor not provided total
Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 6 3 780 552 65 0 0 4 1396
not provided 4 12 173 58 48 0 0 2 280
Inborn genetic diseases 1 0 69 24 1 0 0 0 95
Aicardi-Goutieres syndrome 7 30 9 34 5 2 0 0 0 77
IFIH1-related disorder 2 0 24 22 8 0 0 0 56
not specified 0 0 17 8 20 0 0 0 45
Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7; Immunodeficiency 95 0 2 29 8 1 0 0 0 40
Singleton-Merten syndrome 1 6 4 9 3 2 0 0 0 23
Immunodeficiency 95 5 3 6 1 0 0 0 0 13
See cases 0 0 6 0 0 0 0 0 6
IFIH1-related type 1 interferonopathy 0 1 2 1 0 0 0 0 4
Basal ganglia calcification, idiopathic, childhood-onset 0 0 3 0 0 0 0 0 3
IFIH1-related immunodeficiency 0 0 2 0 0 0 0 0 2
Multisystem inflammatory syndrome in children 0 0 0 0 0 0 2 0 2
Susceptibility to severe COVID-19 0 0 0 0 0 2 0 0 2
Aicardi Goutieres syndrome 0 1 0 0 0 0 0 0 1
Hereditary predisposition to infections 0 1 0 0 0 0 0 0 1
Hyperreflexia; Clonus; Neonatal hypotonia; Abnormal upper motor neuron morphology; Abnormal basal ganglia morphology; Developmental regression; Abnormal cerebral white matter morphology 0 1 0 0 0 0 0 0 1
IFIH1-related interferonopathy 0 0 1 0 0 0 0 0 1
Incidental Discovery 1 0 0 0 0 0 0 0 1
Neurodevelopmental delay 1 0 0 0 0 0 0 0 1
Prostate cancer 0 0 1 0 0 0 0 0 1
Spastic diplegia 0 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 82
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 6 1 769 555 65 0 0 0 1396
GeneDx 3 3 108 18 40 0 0 0 172
Ambry Genetics 1 0 69 24 1 0 0 0 95
CeGaT Center for Human Genetics Tuebingen 3 4 32 27 2 0 0 0 68
PreventionGenetics, part of Exact Sciences 2 0 24 23 11 0 0 0 60
Breakthrough Genomics, Breakthrough Genomics 0 1 4 17 21 0 0 0 43
Fulgent Genetics, Fulgent Genetics 1 2 15 7 1 0 0 0 26
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 14 6 4 0 0 0 24
Revvity Omics, Revvity 1 0 19 1 0 0 0 0 21
Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine 19 0 0 0 0 0 0 0 19
OMIM 17 0 0 0 0 0 0 0 17
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 13 1 0 0 0 0 14
Mayo Clinic Laboratories, Mayo Clinic 0 0 13 0 0 0 0 0 13
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 13 0 0 0 13
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 6 2 2 0 0 0 11
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 8 1 0 0 0 10
Baylor Genetics 1 1 6 0 0 0 0 0 8
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 2 2 4 1 0 2 2 0 7
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 6 0 0 0 0 6
Mendelics 1 1 0 3 1 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 4 0 0 0 0 0 6
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 3 2 0 0 0 0 6
New York Genome Center 0 1 5 0 0 0 0 0 6
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 1 3 0 0 0 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 4 0 0 0 0 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 2 0 0 0 0 0 4
Illumina Laboratory Services, Illumina 1 0 3 0 0 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 3 0 0 0 0 4
Institute of Human Genetics, University Hospital Muenster 0 0 4 0 0 0 0 0 4
3billion 2 1 1 0 0 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 4 0 0 0 0 0 4
Eurofins Ntd Llc (ga) 0 0 2 0 1 0 0 0 3
Blueprint Genetics 1 0 2 0 0 0 0 0 3
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 3 0 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 1 0 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 1 0 0 0 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 3 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 0 0 0 2
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 1 0 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 0 0 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 1 0 0 0 0 0 2
Undiagnosed Diseases Network, NIH 0 0 2 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 0 0 2 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 0 2 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 1 0 1 0 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 1 1 0 0 0 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 1 1 0 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 1 0 1 0 0 0 0 2
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 0 0 2 0 0 0 0 0 2
Athena Diagnostics 0 0 1 0 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 0 1 0 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 0 0 1 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 0 0 0 1
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 1 0 0 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 0 0 1
Division of Neonatology, National Center for Child Health and Development 1 0 0 0 0 0 0 0 1
Biochemistry Laboratory of CDMU, Chengde Medical University 0 1 0 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 0 0 1
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand 0 1 0 0 0 0 0 0 1
Molecular Medicine, University of Pavia 0 1 0 0 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 0 0 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 1 0 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 0 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 1 1
Solve-RD Consortium 0 1 0 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 0 0 1
Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University 0 0 1 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.