ClinVar Miner

Variants in gene ADGRV1

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Minimum submission review status: Collection method:
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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
447 163 2259 3602 594 10 6199

Condition and significance breakdown #

Total conditions: 29
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 395 77 1750 3474 571 9 5834
not specified 0 0 190 281 173 0 545
Usher syndrome type 2C 30 27 347 34 74 1 500
Inborn genetic diseases 0 0 228 19 0 0 247
ADGRV1-related condition 1 11 14 88 13 0 127
Usher syndrome type 2C; Febrile seizures, familial, 4 3 2 59 18 14 0 96
Retinal dystrophy 4 14 23 0 0 0 41
Usher syndrome 14 24 1 0 0 0 38
Febrile seizures, familial, 4 2 1 29 0 0 0 32
Rare genetic deafness 24 3 0 0 0 0 27
Hearing impairment 0 2 15 1 0 0 18
Usher syndrome type 2 8 2 0 0 0 0 10
Idiopathic generalized epilepsy 1 5 0 0 0 0 6
Seizure 0 0 6 0 0 0 6
Retinitis pigmentosa 0 2 3 0 0 0 5
Usher syndrome type 2A 4 0 0 0 0 0 4
Febrile seizures, familial, 1 0 0 3 0 0 0 3
See cases 0 0 2 1 0 0 3
ADGRV1-Related Disorders 1 1 0 0 0 0 2
Meniere disease 0 0 2 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 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
Ear malformation 0 1 0 0 0 0 1
Hearing loss, autosomal recessive 0 1 0 0 0 0 1
Usher syndrome, type IIC, GPR98/PDZD7 digenic 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 95
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 376 56 1295 3212 320 0 5259
GeneDx 18 18 237 324 379 0 976
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 25 3 146 175 142 0 491
Illumina Laboratory Services, Illumina 0 1 312 34 62 0 409
Eurofins Ntd Llc (ga) 8 0 236 27 50 0 321
Ambry Genetics 0 0 228 19 0 0 247
PreventionGenetics, part of Exact Sciences 1 11 14 88 50 0 164
Athena Diagnostics Inc 1 1 44 23 56 0 125
CeGaT Center for Human Genetics Tuebingen 4 1 35 59 11 0 110
Fulgent Genetics, Fulgent Genetics 3 2 59 18 14 0 96
Genetic Services Laboratory, University of Chicago 0 0 13 75 3 0 91
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 15 50 4 0 70
Clinical Genetics, Academic Medical Center 0 0 8 16 44 0 68
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 23 11 32 0 66
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 18 33 6 1 0 62
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 1 36 21 0 58
Blueprint Genetics 4 13 23 0 0 0 40
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 1 8 14 7 0 30
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 3 9 18 0 30
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 7 0 15 0 23
Genome-Nilou Lab 0 0 0 0 21 0 21
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 0 3 17 1 0 0 21
Mendelics 5 1 4 0 8 0 18
Baylor Genetics 1 0 11 0 0 0 12
Revvity Omics, Revvity 0 1 11 0 0 0 12
New York Genome Center 0 0 12 0 0 0 12
Mayo Clinic Laboratories, Mayo Clinic 0 1 10 0 0 0 11
Ocular Genomics Institute, Massachusetts Eye and Ear 1 2 7 0 0 0 10
OMIM 9 0 0 0 0 0 9
NEI Ophthalmic Genomics Laboratory, National Institutes of Health 0 0 0 0 0 7 7
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 7 0 0 0 7
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 6 1 0 0 0 0 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
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 0 6 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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 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
Paris Brain Institute, Inserm - ICM 1 5 0 0 0 0 6
WangQJ Lab, Chinese People's Liberation Army General Hospital 0 3 3 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
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 4 0 0 5
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 2 3 0 0 5
King Laboratory, University of Washington 1 3 0 0 0 0 4
Bionano Laboratories 2 0 3 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 0 1 3 0 0 0 4
DBGen Ocular Genomics 0 0 4 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
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 2 0 0 0 0 2
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 0 1 1 0 2
Centogene AG - the Rare Disease Company 0 1 1 0 0 0 2
GeneReviews 0 2 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 0 2
Otology & Neurotology- Genomics of vestibular disorders (CTS-495), Jose Antonio López Escámez, Centro Pfizer - Universidad de Granada - Junta de Andalucía de Genómica e Investigación Oncológica (GENYO) 0 0 2 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
INGEBI, INGEBI / CONICET 2 0 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
The Shared Resource Centre "Genome", Research Centre for Medical Genetics 0 2 0 0 0 0 2
DECIPHERD-UDD, Universidad del Desarrollo 0 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
MGZ Medical Genetics Center 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
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 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
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Institute of Cellular and Molecular Medicine, Copenhagen University 0 0 1 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Faculty of Health Sciences, Beirut Arab University 1 0 0 0 0 0 1
3billion 0 1 0 0 0 0 1
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 1 0 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 1
DASA 1 0 0 0 0 0 1
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 0 1 0 0 1
UAEU Genomics Laboratory, United Arab Emirates University 0 0 1 0 0 0 1

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