ClinVar Miner

Variants in gene combination EYS, PHF3

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Minimum submission review status: Collection method:
Minimum conflict level:
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 total
130 73 223 177 7 528

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 117 13 154 170 7 451
Retinitis pigmentosa 25 38 51 41 7 2 121
Retinal dystrophy 7 11 33 2 2 54
Retinitis pigmentosa 12 18 20 3 1 48
Autosomal recessive retinitis pigmentosa 0 0 18 0 0 18
not specified 0 0 9 2 3 14
Inborn genetic diseases 0 0 12 1 0 13
EYS-related condition 3 0 1 0 0 4
Retinitis Pigmentosa, Recessive 0 0 4 0 0 4
Astigmatism; Cystoid macular edema; Abnormal electroretinogram; Pigmentary retinopathy; Dyschromatopsia; Abnormality of retinal pigmentation; Electronegative electroretinogram 0 0 1 0 0 1
Visual impairment; Retinal dystrophy; Color vision defect; Horizontal nystagmus 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 47
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 116 5 151 168 6 446
Natera, Inc. 9 0 48 7 2 66
Baylor Genetics 24 39 0 0 0 63
Dept Of Ophthalmology, Nagoya University 1 5 28 2 2 38
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 10 8 2 1 26
Illumina Laboratory Services, Illumina 0 0 21 1 0 22
Mendelics 17 0 1 1 0 19
Blueprint Genetics 7 5 5 0 0 17
GeneDx 2 5 3 2 1 13
Ambry Genetics 0 0 12 1 0 13
Counsyl 0 7 3 3 0 13
Eurofins Ntd Llc (ga) 4 1 2 1 3 11
CeGaT Center for Human Genetics Tuebingen 2 2 3 2 1 10
Ocular Genomics Institute, Massachusetts Eye and Ear 2 3 5 0 0 10
Fulgent Genetics, Fulgent Genetics 1 4 2 0 0 7
Revvity Omics, Revvity 4 1 1 0 0 6
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 3 1 1 0 0 5
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 2 1 0 0 4
PreventionGenetics, part of Exact Sciences 3 0 1 0 0 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 1 1 0 0 4
Sharon lab, Hadassah-Hebrew University Medical Center 3 1 0 0 0 4
DBGen Ocular Genomics 2 1 1 0 0 4
Department of Ophthalmology and Visual Sciences Kyoto University 2 1 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 0 0 0 0 3
Molecular Genetics Laboratory, Institute for Ophthalmic Research 2 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 0 1 0 2
MGZ Medical Genetics Center 0 2 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 2
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 1 1 0 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 0 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 1 0 0 2
Siriraj Ophthalmic Genetics Research, Faculty of Medicine Siriraj Hospital, Mahidol University 0 1 1 0 0 2
OMIM 1 0 0 0 0 1
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 0 0 1 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 1 0 1
Bionano Laboratories 0 0 1 0 0 1
INSERM U1051, Institut des Neurosciences de Montpellier 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 0 1 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 0 0 0 1
Pars Genome Lab 0 0 1 0 0 1
3billion 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 0 1

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