ClinVar Miner

Variants in gene RPGRIP1L

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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 risk factor not provided total
229 165 816 914 82 1 1 1989

Condition and significance breakdown #

Total conditions: 30
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Joubert syndrome; Meckel-Gruber syndrome 213 56 476 802 43 0 0 1590
Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 8 81 230 33 2 0 0 354
RPGRIP1L-related disorder 4 26 216 97 4 0 0 347
not provided 22 15 135 75 41 0 0 273
Joubert syndrome 11 7 180 15 15 0 0 227
Joubert syndrome 7 20 9 104 11 17 0 1 160
Meckel syndrome, type 5 4 6 113 4 15 0 0 141
Inborn genetic diseases 3 0 104 17 2 0 0 126
Nephronophthisis 8 0 0 100 10 12 0 0 122
not specified 0 0 22 47 25 0 0 75
Joubert syndrome and related disorders 4 11 0 0 0 0 0 15
Retinal dystrophy 0 0 12 0 0 0 0 12
Kidney disorder 0 0 3 2 4 0 0 9
COACH syndrome 1 1 0 5 0 0 0 0 6
COACH syndrome 1; Joubert syndrome 7; Meckel syndrome, type 5 1 1 4 0 0 0 0 6
Meckel-Gruber syndrome 0 1 3 0 0 0 0 4
Nephronophthisis 0 0 3 0 0 0 1 4
COACH syndrome 3 2 0 0 0 0 0 0 2
Optic atrophy 0 0 2 0 0 0 0 2
Abnormality of prenatal development or birth 1 0 0 0 0 0 0 1
Bardet-Biedl syndrome 0 1 0 0 0 0 0 1
COACH syndrome 1; Joubert syndrome 7 0 0 1 0 0 0 0 1
Ciliopathy 1 0 0 0 0 0 0 1
Focal segmental glomerulosclerosis 0 0 0 0 1 0 0 1
HP:0003473; HP:0000508 0 1 0 0 0 0 0 1
Joubert syndrome 7; COACH syndrome 3 0 1 0 0 0 0 0 1
Leber congenital amaurosis 0 1 0 0 0 0 0 1
Microcephaly 0 0 1 0 0 0 0 1
Retinitis pigmentosa in ciliopathies, modifier of 0 0 0 0 0 1 0 1
See cases 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 59
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 213 56 476 804 43 0 0 1592
PreventionGenetics, part of Exact Sciences 4 26 216 114 15 0 0 375
Fulgent Genetics, Fulgent Genetics 8 82 233 33 1 0 0 356
Natera, Inc. 9 5 177 15 15 0 0 221
GeneDx 12 7 81 55 45 0 0 200
Ambry Genetics 3 0 104 17 2 0 0 126
Illumina Laboratory Services, Illumina 0 0 113 13 12 0 0 126
Eurofins Ntd Llc (ga) 4 0 32 7 9 0 0 52
Breakthrough Genomics, Breakthrough Genomics 0 0 7 16 19 0 0 42
CeGaT Center for Human Genetics Tuebingen 2 1 16 19 2 0 0 40
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 11 12 4 1 0 0 32
Genetic Services Laboratory, University of Chicago 0 3 8 11 3 0 0 25
Revvity Omics, Revvity 6 5 13 0 0 0 0 24
OMIM 12 0 0 0 0 1 0 13
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 8 5 0 0 13
Genome-Nilou Lab 0 0 0 0 13 0 0 13
UW Hindbrain Malformation Research Program, University of Washington 11 0 0 0 0 0 0 11
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 7 4 0 0 11
Baylor Genetics 2 0 8 0 0 0 0 10
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 0 3 2 5 0 0 10
Clinical Genetics, Academic Medical Center 0 0 0 3 7 0 0 10
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 0 0 10 0 0 0 0 10
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 1 4 2 1 0 0 8
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 4 0 1 1 0 0 6
Mayo Clinic Laboratories, Mayo Clinic 0 0 6 0 0 0 0 6
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 4 0 1 0 0 6
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 6 0 0 0 6
Gharavi Laboratory, Columbia University 0 0 6 0 0 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 2 0 0 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 3 2 0 0 0 0 5
Blueprint Genetics 0 0 4 0 0 0 0 4
Neurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University 0 0 3 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 0 0 0 0 0 0 2
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 2 0 0 0 0 0 2
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 2 0 0 0 0 0 2
Ocular Genomics Institute, Massachusetts Eye and Ear 0 0 2 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 2 0 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 2 0 0 0 0 0 2
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 0 1 0 0 0 0 1
Mendelics 0 0 0 0 1 0 0 1
GeneReviews 1 0 0 0 0 0 1 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 0 1
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 0 1 0 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 0 1
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 0 1 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 0 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 1 0 0 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 0 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 0 1
DBGen Ocular Genomics 0 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 0 1
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH 0 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 0 1

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