ClinVar Miner

Variants studied for oculocerebrorenal syndrome

Included ClinVar conditions (2):
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 not provided total
65 32 110 321 47 32 584

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
OCRL 64 32 108 313 47 32 573
LOC113875008, OCRL 0 0 1 8 0 0 9
ACTRT1, DCAF12L1, LOC113875008, LOC121627978, LOC121853067, OCRL, PRR32, SMARCA1 1 0 0 0 0 0 1
APLN, OCRL, SASH3, XPNPEP2, ZDHHC9 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 41
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 42 13 102 311 46 0 514
UniProtKB/Swiss-Prot 0 0 0 0 0 32 32
Fulgent Genetics, Fulgent Genetics 1 2 10 11 1 0 25
GeneReviews 8 0 0 0 0 0 8
OMIM 5 0 0 0 0 0 5
3billion 3 1 0 1 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 1 4 0 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 1 0 0 0 3
Mendelics 0 0 0 0 2 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 2 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 0 2
Felix Claverie-Martin Laboratory, Hospital Universitario Nuestra Senora de Candelaria 2 0 0 0 0 0 2
Department of Pediatric Nephropathy, Tongji Hospital, Tongji Medical College of Huazhong University of Science and Technology 2 0 0 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 0 1 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 0 1 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 1
Biochimie Génétique et moléculaire, CHUGA 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 1 0 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 1
Pediatric Nephrology (Iijima Lab), Kobe University Graduate School of Medicine 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 1
Biochemistry Laboratory of CDMU, Chengde Medical University 1 0 0 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 1 0 0 0 0 1
Molecular Medicine, University of Pavia 0 0 1 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 1 0 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
Department of Pediatrics, University Hospital Center Zagreb 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 0 0 0 0 0 1
Akhavan-Niaki Genetics Laboratory, Babol University of Medical Sciences 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 1 0 0 0 0 0 1

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