ClinVar Miner

Variants in gene EYA1

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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 total
73 13 99 46 65 269

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Otofaciocervical syndrome 1 1 0 57 13 45 114
Branchiootic syndrome 1 5 0 44 14 40 103
not provided 8 6 13 13 19 57
Branchiootorenal Syndrome 1 28 2 10 4 9 52
not specified 0 0 18 16 14 47
Melnick-Fraser syndrome 22 1 2 2 0 27
Rare genetic deafness 13 3 0 0 0 16
Branchiootorenal Spectrum Disorders 0 0 10 3 1 14
Branchiootic syndrome 1; Branchiootorenal Syndrome 1; Otofaciocervical syndrome 1 0 2 0 0 0 2
Hearing impairment 0 0 2 0 0 2
See cases 2 0 0 0 0 2
Anterior segment anomalies 1 0 0 0 0 1
Anterior segment anomalies and cataract 1 0 0 0 0 1
Branchiootorenal syndrome with cataract 1 0 0 0 0 1
Malignant tumor of prostate 0 0 1 0 0 1
Renal hypoplasia (disease) 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 53 18 45 111
Invitae 33 1 7 14 11 66
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 13 3 18 15 13 62
GeneDx 6 2 3 5 3 19
OMIM 17 0 0 0 0 17
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 13 13
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 6 0 0 7
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 4 0 1 6
Gharavi Laboratory,Columbia University 3 2 1 0 0 6
PreventionGenetics, PreventionGenetics 0 0 0 0 5 5
Athena Diagnostics Inc 0 0 0 0 3 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 1 1 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 3 0 0 3
Mendelics 0 0 2 0 0 2
Institute of Human Genetics, Klinikum rechts der Isar 2 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 1 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 2 0 0 2
Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center 0 0 2 0 0 2
Institute of Human Genetics,Cologne University 0 1 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 1 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 1 0 0 0 1
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 0 1 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 1
Clinical Genomics Laboratory,Laboratory for Precision Diagnostics, University of Washington 1 0 0 0 0 1
Human Genetics - Radboudumc,Radboudumc 0 0 1 0 0 1
Pediatric Nephrology (Iijima Lab),Kobe University Graduate School of Medicine 0 0 0 0 1 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 1 0 0 0 0 1
Sydney Genome Diagnostics,Children's Hospital Westmead 1 0 0 0 0 1

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