ClinVar Miner

Variants in gene ADGRV1

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 not provided total
94 51 778 413 245 7 1272

Condition and significance breakdown #

Total conditions: 17
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 36 11 411 182 177 7 734
not specified 0 0 156 298 156 0 498
Usher syndrome, type 2C 25 13 320 34 67 0 452
Retinal dystrophy 4 14 23 0 0 0 41
Rare genetic deafness 26 3 0 0 0 0 29
Usher syndrome, type 2C; Febrile seizures, familial, 4 3 0 23 0 0 0 26
Febrile seizures, familial, 4 1 0 11 0 0 0 12
Usher syndrome 2 6 0 0 0 0 8
Usher syndrome type 2 6 2 0 0 0 0 8
See cases 0 0 4 0 0 0 4
Febrile seizures, familial, 1 0 0 3 0 0 0 3
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
Autosomal recessive sensorineural hearing loss 1 0 0 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: 47
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 26 3 133 167 141 0 470
Illumina Clinical Services Laboratory,Illumina 0 1 312 34 62 0 409
Invitae 10 2 147 122 94 0 375
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 36 21 49 0 107
Genetic Services Laboratory, University of Chicago 0 0 13 75 3 0 91
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 18 9 19 0 46
Blueprint Genetics 4 13 23 0 0 0 40
PreventionGenetics,PreventionGenetics 0 0 0 0 37 0 37
CeGaT Praxis fuer Humangenetik Tuebingen 5 0 24 2 0 0 31
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
Mendelics 4 1 2 0 7 0 14
OMIM 10 0 0 0 0 0 10
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
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
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 4 1 0 0 5
Lineagen, Inc 2 0 3 0 0 0 4
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 3 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
GeneReviews 0 2 0 0 0 0 2
ISCA site 1 0 0 2 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
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
Institute for Ophthalmic Research,University Tuebingen 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 1
National Institute on Deafness and Communication Disorders,National Institutes of Health 1 0 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: University of Minnesota 0 1 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.