ClinVar Miner

Variants in gene ADGRV1

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
150 78 1245 549 246 7 1910

Condition and significance breakdown #

Total conditions: 25
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 91 30 908 328 177 7 1433
not specified 0 0 170 306 157 0 521
Usher syndrome, type 2C 25 16 333 34 67 0 467
Retinal dystrophy 4 14 23 0 0 0 41
Rare genetic deafness 25 3 0 0 0 0 28
Usher syndrome, type 2C; Febrile seizures, familial, 4 3 0 23 0 0 0 26
none provided 0 0 4 3 16 0 23
Febrile seizures, familial, 4 1 0 17 0 0 0 18
Hearing impairment 0 2 15 1 0 0 18
Usher syndrome 3 7 1 0 0 0 10
Usher syndrome type 2 8 2 0 0 0 0 10
Seizures 0 0 6 0 0 0 6
See cases 0 0 4 0 0 0 4
Usher syndrome, type 2A 4 0 0 0 0 0 4
Febrile seizures, familial, 1 0 0 3 0 0 0 3
Inborn genetic diseases 0 0 2 0 0 0 2
Retinitis pigmentosa 0 2 0 0 0 0 2
Usher syndrome type 1 0 2 0 0 0 0 2
ADGRV1-related myoclonic epilepsy 0 1 0 0 0 0 1
Abnormal activity of mitochondrial respiratory chain 0 1 0 0 0 0 1
Autosomal recessive nonsyndromic deafness 0 1 0 0 0 0 1
Autosomal recessive sensorineural hearing loss 1 0 0 0 0 0 1
Beta-D-mannosidosis 0 0 1 0 0 0 1
Cerebral arteriovenous malformation; Tremor; Hand tremor; Arteriovenous malformation 0 0 1 0 0 0 1
Usher syndrome type 2c, GPR98/PDZD digenic 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 57
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 68 19 702 268 94 0 1151
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 26 3 146 178 142 0 495
Illumina Clinical Services Laboratory,Illumina 0 1 312 34 62 0 409
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 8 0 236 28 50 0 322
GeneDx 11 8 19 87 142 0 267
Athena Diagnostics Inc 1 0 37 24 53 0 115
Genetic Services Laboratory, University of Chicago 0 0 13 75 3 0 91
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 22 11 25 0 58
Blueprint Genetics 4 13 23 0 0 0 40
PreventionGenetics, PreventionGenetics 0 0 0 0 37 0 37
CeGaT Praxis fuer Humangenetik Tuebingen 5 1 23 6 0 0 35
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 8 14 7 0 30
Fulgent Genetics,Fulgent Genetics 3 0 23 0 0 0 26
Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center 0 3 17 1 0 0 21
Mendelics 4 1 2 0 7 0 14
Baylor Genetics 0 0 11 0 0 0 11
OMIM 10 0 0 0 0 0 10
Ocular Genomics Institute, Massachusetts Eye and Ear 1 2 7 0 0 0 10
New York Genome Center 0 0 9 0 0 0 9
NEI Ophthalmic Genomics Laboratory,National Institutes of Health 0 0 0 0 0 7 7
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 3 4 0 0 0 0 7
NIHR Bioresource Rare Diseases, University of Cambridge 1 6 0 0 0 0 7
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 5 2 0 0 7
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 6 0 0 0 6
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 1 3 0 0 0 6
Sharon lab,Hadassah-Hebrew University Medical Center 4 2 0 0 0 0 6
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 4 2 0 0 0 0 6
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 4 1 0 0 5
National Institute on Deafness and Communication Disorders,National Institutes of Health 5 0 0 0 0 0 5
Lineagen, Inc 2 0 3 0 0 0 4
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 4 0 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 1 0 0 0 0 4
Molecular Genetics Laboratory,Institute for Ophthalmic Research 3 0 0 0 0 0 3
Department of Ophthalmology and Visual Sciences Kyoto University 0 3 0 0 0 0 3
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 3 0 0 0 3
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 0 2 0 0 0 0 2
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 1 1 0 2
Ambry Genetics 0 0 2 0 0 0 2
Integrated Genetics/Laboratory Corporation of America 0 1 1 0 0 0 2
GeneReviews 0 2 0 0 0 0 2
ISCA site 1 0 0 2 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 1 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 0 0 0 0 0 2
Hereditary Research Laboratory, Bethlehem University 2 0 0 0 0 0 2
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 0 0 1 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 1 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Human Genetics - Radboudumc,Radboudumc 0 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 0 1
Kasturba Medical College, Manipal University 1 0 0 0 0 0 1
Undiagnosed Diseases Network,NIH 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Institute of Cellular and Molecular Medicine,Copenhagen University 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1

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