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
51 8 67 47 34 192

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Branchiootorenal Spectrum Disorders 0 0 35 34 9 78
Otofaciocervical syndrome 1 1 0 35 33 9 78
not specified 0 0 17 15 14 44
not provided 8 4 11 4 15 41
Melnick-Fraser syndrome 24 0 9 0 2 35
Rare genetic deafness 13 3 0 0 0 16
Branchiootic syndrome 4 0 0 0 0 4
Branchiootic syndrome; Melnick-Fraser syndrome; Otofaciocervical syndrome 1 0 2 0 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 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 35 34 9 78
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 13 3 17 13 13 59
Invitae 16 0 5 0 1 22
GeneDx 6 2 3 5 3 19
OMIM 17 0 0 0 0 17
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 13 13
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 4 0 1 6
Gharavi Laboratory,Columbia University 3 2 1 0 0 6
PreventionGenetics 0 0 0 0 5 5
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 4 0 0 4
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
Athena Diagnostics Inc 0 0 0 0 1 1
Fulgent Genetics,Fulgent Genetics 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 Cytogenomics Laboratory,Center for Precision Diagnostics, University of Washington 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 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

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