ClinVar Miner

Variants in gene IFIH1

Minimum submission review status: Collection method:
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Gene type:
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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 not provided total
31 11 228 74 32 1 356

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 3 2 200 58 29 1 287
not provided 4 3 23 19 0 0 49
Aicardi-Goutieres syndrome 7 30 4 12 2 0 0 46
Singleton-Merten syndrome 1 1 2 7 3 1 0 14
not specified 0 0 3 2 5 0 10
IFIH1-related immunodeficiency 0 0 2 0 0 0 2
Hyperreflexia; Clonus; Neonatal hypotonia; Abnormal upper motor neuron morphology; Abnormality of the basal ganglia; Developmental regression; Abnormality of the cerebral white matter 0 1 0 0 0 0 1
Malignant tumor of prostate 0 0 1 0 0 0 1
none provided 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 2 2 187 68 29 0 288
CeGaT Praxis fuer Humangenetik Tuebingen 2 2 12 3 0 0 19
Laboratory of Neurogenetics and Neuroinflammation,Institut Imagine 19 0 0 0 0 0 19
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 12 0 0 0 12
OMIM 10 0 0 0 0 0 10
GeneDx 3 1 4 1 0 0 9
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 4 0 0 0 6
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 3 2 0 0 6
Mendelics 0 1 0 3 1 0 5
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 4 0 0 0 5
Baylor Genetics 0 0 4 0 0 0 4
PreventionGenetics, PreventionGenetics 0 0 0 1 3 0 4
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 2 0 1 0 3
Blueprint Genetics 1 0 2 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 1 0 0 3
Al Jalila Children's Genomics Center,Al Jalila Childrens Speciality Hospital 0 0 3 0 0 0 3
Fulgent Genetics,Fulgent Genetics 1 0 1 0 0 0 2
Undiagnosed Diseases Network,NIH 0 0 2 0 0 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 0 0 2 0 2
Genetic Services Laboratory, University of Chicago 0 0 1 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Institute of Human Genetics,Cologne University 0 0 0 1 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 0 0 1 0 0 0 1
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Division of Neonatology,National Center for Child Health and Development 1 0 0 0 0 0 1
Biochemistry Laboratory of CDMU,Chengde Medical University 0 1 0 0 0 0 1
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1

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