ClinVar Miner

Variants in gene AHI1

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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 total
90 36 275 139 55 518

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Joubert syndrome 41 5 155 66 30 297
Joubert syndrome 3 47 11 88 15 17 174
not provided 15 8 48 33 13 115
not specified 0 0 4 50 31 66
Retinal dystrophy 2 5 10 0 0 17
Retinitis pigmentosa 4 4 1 0 0 9
Joubert syndrome 1 3 3 0 0 1 7
Joubert syndrome with ocular defect 4 0 1 0 0 5
Intellectual disability 0 0 1 3 0 4
Rod-cone dystrophy 2 2 0 0 0 4
See cases 0 0 4 0 0 4
Leber congenital amaurosis 2 0 0 0 0 2
Nephronophthisis 2 0 0 0 0 2
Abnormality of the eye 0 1 0 0 0 1
Global developmental delay; Oculomotor apraxia; Generalized hypotonia; Cerebellar vermis hypoplasia; Relative macrocephaly; Congenital ptosis 0 0 1 0 0 1
Global developmental delay; Typical Joubert syndrome MRI findings 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 47
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 41 5 152 75 29 302
Illumina Clinical Services Laboratory,Illumina 0 1 84 16 18 119
GeneDx 10 6 18 40 22 96
PreventionGenetics, PreventionGenetics 0 0 0 25 22 47
UW Hindbrain Malformation Research Program,University of Washington 32 0 0 0 0 32
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 13 5 11 30
Blueprint Genetics 2 5 10 0 0 17
CeGaT Praxis fuer Humangenetik Tuebingen 2 2 8 2 0 14
Genetic Services Laboratory, University of Chicago 1 1 2 6 2 12
OMIM 10 0 1 0 0 11
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 4 4 1 9
Mendelics 3 3 0 0 1 7
Lineagen, Inc 3 0 4 0 0 6
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 2 1 3 0 6
NIHR Bioresource Rare Diseases, University of Cambridge 0 5 0 0 0 5
Laboratory of Genetics in Ophthalmology,Institut Imagine 4 0 1 0 0 5
Baylor Genetics 1 0 3 0 0 4
Ocular Genomics Institute, Massachusetts Eye and Ear 2 2 0 0 0 4
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 1 2 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 2 3
Broad Institute Rare Disease Group, Broad Institute 0 0 3 0 0 3
Gharavi Laboratory,Columbia University 0 0 3 0 0 3
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 0 0 2 0 0 2
Molecular Diagnostics Laboratory,Seoul National University Hospital 2 0 0 0 0 2
Fulgent Genetics,Fulgent Genetics 1 0 1 0 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 2 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 0 0 2
Human Genetics - Radboudumc,Radboudumc 1 0 1 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 1 0 0 1 2
Sharon lab,Hadassah-Hebrew University Medical Center 2 0 0 0 0 2
Breda Genetics srl 2 0 0 0 0 2
Sydney Genome Diagnostics,Children's Hospital Westmead 2 0 0 0 0 2
Athena Diagnostics Inc 0 0 0 0 1 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 1 0 0 1
Molecular Genetics Laboratory,Institute for Ophthalmic Research 1 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 0 1 0 1
ISCA site 6 0 0 1 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 1
Rui Chen Lab,Baylor College of Medicine 1 0 0 0 0 1
Ege University Pediatric Genetics,Ege University 0 0 1 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 0 1 0 0 1
Institute of Vision Research, Yonsei University College of Medicine 1 0 0 0 0 1

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