ClinVar Miner

Variants studied for retinitis pigmentosa 25

Included ClinVar conditions (1):
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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
183 331 358 69 59 927

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
EYS 136 271 316 62 57 787
EYS, PHF3 41 59 42 7 2 133
EYS, LOC132089416 2 0 0 0 0 2
EYS, LOC132089415 1 0 0 0 0 1
EYS, LOC132089415, LOC132089416 1 0 0 0 0 1
EYS, LOC132089417 0 1 0 0 0 1
EYS, LOC132089417, LOC132089418, LOC132089419, LOC132089420, LOC132089421, LOC132089422, LOC132089423, LOC132089424, LOC132089425, LOC132090758, LOC132090759, LOC132205963 1 0 0 0 0 1
EYS, LOC441155 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 47
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Baylor Genetics 112 260 7 0 0 379
Natera, Inc. 27 11 261 45 12 356
Fulgent Genetics, Fulgent Genetics 13 14 38 6 0 71
Genome-Nilou Lab 1 3 12 5 42 63
Counsyl 4 14 28 7 0 53
Ocular Genomics Institute, Massachusetts Eye and Ear 19 14 10 0 0 43
Mendelics 32 1 3 1 3 40
Revvity Omics, Revvity 15 15 6 0 0 36
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 1 2 5 13 23
DBGen Ocular Genomics 9 3 6 0 0 18
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 12 0 3 0 0 15
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 2 0 1 6 5 14
Siriraj Ophthalmic Genetics Research, Faculty of Medicine Siriraj Hospital, Mahidol University 4 6 3 0 0 13
3billion 4 4 4 0 0 12
MGZ Medical Genetics Center 2 6 1 0 0 9
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 4 2 2 0 0 8
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 7 7
OMIM 6 0 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 2 2 1 0 0 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 5 0 0 0 0 5
Pars Genome Lab 0 0 2 3 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 0 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 1 1 0 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 2 0 2 0 0 4
Illumina Laboratory Services, Illumina 3 0 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 2 0 0 3
Genetics and Molecular Pathology, SA Pathology 0 3 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 1 0 0 0 3
Reproductive Health Research and Development, BGI Genomics 3 0 0 0 0 3
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 1 1 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 0 0 0 0 2
Sema4, Sema4 0 2 0 0 0 2
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 2 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 2
Department of Medical Genetics, Erciyes University Faculty of Medicine 0 0 2 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 1
Blueprint Genetics 0 0 1 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 0 1
Maternalfetal Medicine, Genetics and Reproduction, University Hospital Virgen del Rocio/CIBERER 1 0 0 0 0 1

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