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
59 26 410 287 156 7 755

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not specified 0 0 146 277 155 0 468
not provided 17 5 272 32 45 7 368
Usher syndrome, type 2C 39 13 8 0 0 0 58
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
See cases 0 0 4 0 0 0 4
Febrile seizures, familial, 1 0 0 3 0 0 0 3
Usher syndrome, type 1 0 2 0 0 0 0 2
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
Retinal dystrophy 0 1 0 0 0 0 1
Usher syndrome type 2c, GPR98/PDZD digenic 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 23 3 126 146 140 0 438
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 8 0 236 28 50 0 322
GeneDx 9 4 19 53 66 0 151
Genetic Services Laboratory, University of Chicago 0 0 13 75 3 0 91
Athena Diagnostics Inc 1 0 16 14 45 0 76
PreventionGenetics 0 0 0 0 37 0 37
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 8 14 7 0 30
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 15 7 6 0 28
Fulgent Genetics 3 0 23 0 0 0 26
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 9 2 0 0 11
OMIM 10 0 0 0 0 0 10
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
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 6 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
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 0 2 0 0 0 4
Department of Ophthalmology and Visual Sciences Kyoto University 0 3 0 0 0 0 3
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 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
GeneReviews 0 2 0 0 0 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 2 0 0 0 2
Illumina Clinical Services Laboratory,Illumina 0 1 1 0 0 0 2
ISCA site 1 0 0 2 0 0 0 2
Hereditary Research Laboratory,Bethlehem University 2 0 0 0 0 0 2
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 1 1 0 2
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories, Inc. 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
Institute of Cellular and Molecular Medicine,Copenhagen University 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 1 0 0 0 0 1

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