ClinVar Miner

Variants in gene ADGRV1

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
551 257 2802 3990 606 75 7169

Condition and significance breakdown #

Total conditions: 60
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 475 109 1972 3840 578 9 6414
Inborn genetic diseases 0 0 737 63 0 0 800
not specified 1 0 302 337 180 0 705
Usher syndrome type 2C 47 53 322 36 100 1 545
ADGRV1-related disorder 6 17 36 110 13 0 182
Usher syndrome type 2C; Febrile seizures, familial, 4 15 38 71 19 14 0 157
Retinal dystrophy 20 17 47 0 0 0 84
Febrile seizures, familial, 4 4 6 49 1 0 0 60
Usher syndrome 23 26 4 0 0 0 51
Usher syndrome type 2 8 2 22 1 0 0 33
Rare genetic deafness 24 3 0 0 0 0 27
Hearing impairment 0 2 15 2 0 0 19
Uterine corpus endometrial carcinoma 0 0 0 0 0 12 12
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 10 10
Malignant tumor of esophagus 0 0 0 0 0 8 8
Nonpapillary renal cell carcinoma 0 0 0 0 0 8 8
Sarcoma 0 0 0 0 0 8 8
Thymoma 0 0 0 0 0 8 8
Familial cancer of breast 0 0 0 0 0 7 7
Monogenic hearing loss 5 1 1 0 0 0 7
Cervical cancer 0 0 0 0 0 6 6
Idiopathic generalized epilepsy 1 5 0 0 0 0 6
Retinitis pigmentosa 1 2 3 0 0 0 6
Ovarian serous cystadenocarcinoma 0 0 0 0 0 5 5
Gastric cancer 0 0 0 0 0 4 4
Usher syndrome type 2A 4 0 0 0 0 0 4
Acute myeloid leukemia 0 0 0 0 0 3 3
Cholangiocarcinoma 0 0 0 0 0 3 3
Craniosynostosis syndrome 0 0 0 3 0 0 3
Febrile seizures, familial, 1 0 0 3 0 0 0 3
Intellectual disability 0 0 2 1 0 0 3
Lung cancer 0 0 0 0 0 3 3
Optic atrophy 0 0 3 0 0 0 3
See cases 0 0 2 1 0 0 3
Adrenocortical carcinoma, hereditary 0 0 0 0 0 2 2
Clear cell carcinoma of kidney 0 0 0 0 0 2 2
Meniere disease 0 0 2 0 0 0 2
Ovarian cancer 0 0 0 0 0 2 2
Retinal disorder 2 0 0 0 0 0 2
Squamous cell lung carcinoma 0 0 0 0 0 2 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
Colon adenocarcinoma 0 0 0 0 0 1 1
Ear malformation 0 1 0 0 0 0 1
Familial pancreatic carcinoma 0 0 0 0 0 1 1
Familial prostate cancer 0 0 0 0 0 1 1
Germ cell tumor of testis 0 0 0 0 0 1 1
Glioma susceptibility 1 0 0 0 0 0 1 1
Hearing loss, autosomal recessive 0 1 0 0 0 0 1
Hepatocellular carcinoma 0 0 0 0 0 1 1
Lymphoma 0 0 0 0 0 1 1
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 1 1
Malignant tumor of urinary bladder 0 0 0 0 0 1 1
Usher syndrome, type IIC, GPR98/PDZD7 digenic 1 0 0 0 0 0 1
Uterine carcinosarcoma 0 0 0 0 0 1 1
Vascular disorder 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 120
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 454 73 1329 3559 328 0 5743
GeneDx 27 32 456 323 379 0 1217
Ambry Genetics 0 0 737 63 0 0 800
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 25 3 146 178 142 0 494
Illumina Laboratory Services, Illumina 0 2 280 36 88 0 406
Eurofins Ntd Llc (ga) 8 0 236 27 50 0 321
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 16 23 158 65 3 0 265
PreventionGenetics, part of Exact Sciences 3 13 36 110 50 0 212
CeGaT Center for Human Genetics Tuebingen 9 1 64 99 12 0 185
Athena Diagnostics 1 1 49 23 78 0 152
Fulgent Genetics, Fulgent Genetics 15 34 69 19 14 0 151
Genetic Services Laboratory, University of Chicago 0 0 13 75 3 0 91
Breakthrough Genomics, Breakthrough Genomics 0 0 21 55 0 0 76
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
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 66 66
Mayo Clinic Laboratories, Mayo Clinic 0 1 16 4 45 0 66
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 1 36 21 0 58
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 15 3 28 0 0 0 46
Blueprint Genetics 4 13 23 0 0 0 40
Department of Pathology and Laboratory Medicine, Sinai Health System 0 2 26 3 0 0 31
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 1 15 0 24
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 0 3 17 1 0 0 21
Genome-Nilou Lab 0 0 0 0 21 0 21
Revvity Omics, Revvity 2 2 15 0 0 0 19
Mendelics 5 1 4 0 8 0 18
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 3 10 3 0 0 17
3billion 5 6 3 0 0 0 14
Baylor Genetics 1 0 11 0 0 0 12
New York Genome Center 0 0 12 0 0 0 12
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 2 4 0 0 0 11
Neuberg Centre For Genomic Medicine, NCGM 1 0 9 0 0 0 10
Ocular Genomics Institute, Massachusetts Eye and Ear 1 2 7 0 0 0 10
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 7 1 1 0 0 0 9
Laboratory of Prof. Karen Avraham, Tel Aviv University 3 3 3 0 0 0 9
OMIM 9 0 0 0 0 0 9
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 3 4 0 0 7
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 3 4 0 0 0 0 7
Juno Genomics, Hangzhou Juno Genomics, Inc 0 4 3 0 0 0 7
NEI Ophthalmic Genomics Laboratory, National Institutes of Health 0 0 0 0 0 7 7
NIHR Bioresource Rare Diseases, University of Cambridge 1 6 0 0 0 0 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
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 1 3 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 Research Center, Shahid Beheshti University of Medical Sciences 0 0 6 0 1 0 6
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 4 2 0 0 0 0 6
Paris Brain Institute, Inserm - ICM 1 5 0 0 0 0 6
Sharon lab, Hadassah-Hebrew University Medical Center 4 2 0 0 0 0 6
WangQJ Lab, Chinese People's Liberation Army General Hospital 0 3 3 0 0 0 6
Dubai Health Genomic Medicine Center, Dubai Health 0 0 2 3 0 0 5
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 4 1 0 0 5
Institute of Rare Diseases, West China Hospital, Sichuan University 0 5 0 0 0 0 5
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 4 0 0 5
National Institute on Deafness and Communication Disorders, National Institutes of Health 5 0 0 0 0 0 5
Bionano Laboratories 2 0 3 0 0 0 4
DBGen Ocular Genomics 0 0 4 0 0 0 4
First Genomix Gene Laboratory, Genetic Diagnostics Department 2 2 0 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 0 1 3 0 0 0 4
King Laboratory, University of Washington 1 3 0 0 0 0 4
Laboratory of Genetics, Children's Clinical University Hospital Latvia 1 0 0 3 0 0 4
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 3 0 0 0 3
Department of Ophthalmology and Visual Sciences Kyoto University 0 3 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 3 0 0 0 3
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 3 0 0 0 3
MVZ Martinsried, Medicover Genetics 0 0 3 0 0 0 3
Molecular Genetics Laboratory, Institute for Ophthalmic Research 3 0 0 0 0 0 3
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 1 1 0 0 0 2
CGC Genetics, Unilabs 0 1 1 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 0 0 0 0 0 2
DECIPHERD-UDD, Universidad del Desarrollo 0 0 2 0 0 0 2
Dasa 2 0 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 2 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 0 2
GeneReviews 0 2 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Hereditary Research Laboratory, Bethlehem University 2 0 0 0 0 0 2
Human Genetics Bochum, Ruhr University Bochum 0 1 1 0 0 0 2
INGEBI, INGEBI / CONICET 2 0 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
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 1 0 2
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 2 0 0 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
SingHealth Duke-NUS Institute of Precision Medicine 0 2 0 0 0 0 2
The Shared Resource Centre "Genome", Research Centre for Medical Genetics 0 2 0 0 0 0 2
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 1 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital 0 0 1 0 0 0 1
Department of Medical Genetics, Erciyes University Faculty of Medicine 0 1 0 0 0 0 1
Department of Molecular Genetics, Istishari Arab Hospital 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Faculty of Engineering and Natural Sciences, Biruni University 0 1 0 0 0 0 1
Faculty of Health Sciences, Beirut Arab University 1 0 0 0 0 0 1
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 1 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
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 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
Lab De Baere, Eye and Developmental Genetics Lab, Ghent University 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 0 1 0 0 1
Laboratory of Dr. Barbara Vona, University Medical Center Göttingen 1 0 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 1 0 0 0 0 0 1
Medgenome Labs Pvt Ltd 0 0 1 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
UAEU Genomics Laboratory, United Arab Emirates University 0 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 1

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