ClinVar Miner

Variants in gene RPGRIP1L

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Gene type:

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
238 219 925 938 83 22 2162

Condition and significance breakdown #

Total conditions: 49
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Joubert syndrome; Meckel-Gruber syndrome 217 57 483 818 44 0 1619
Joubert syndrome 22 99 269 16 15 0 419
Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 11 81 230 33 2 0 357
RPGRIP1L-related disorder 4 26 216 97 4 0 347
not provided 22 20 146 83 41 0 293
Inborn genetic diseases 3 1 166 23 2 0 195
Joubert syndrome 7 22 10 104 11 17 1 163
Meckel syndrome, type 5 4 6 113 4 15 0 141
Nephronophthisis 8 0 0 100 10 12 0 122
not specified 0 0 25 48 26 0 79
Joubert syndrome and related disorders 5 11 0 0 0 2 18
Retinal dystrophy 0 0 12 0 0 0 12
Kidney disorder 0 0 3 2 4 0 9
COACH syndrome 1 1 0 5 0 0 0 6
COACH syndrome 1; Joubert syndrome 7; Meckel syndrome, type 5 1 1 4 0 0 0 6
Uterine corpus endometrial carcinoma 0 0 0 0 0 5 5
Gastric cancer 0 0 0 0 0 4 4
Lung cancer 0 0 0 0 0 3 3
Thymoma 0 0 0 0 0 3 3
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 3 3
Acute myeloid leukemia 0 0 0 0 0 2 2
Autosomal recessive RPGRIP1L-related disorders 2 0 0 0 0 0 2
COACH syndrome 3 2 0 0 0 0 0 2
Cervical cancer 0 0 0 0 0 2 2
Clear cell carcinoma of kidney 0 0 0 0 0 2 2
Colon adenocarcinoma 0 0 0 0 0 2 2
Familial cancer of breast 0 0 0 0 0 2 2
Malignant tumor of esophagus 0 0 0 0 0 2 2
Malignant tumor of urinary bladder 0 0 0 0 0 2 2
Optic atrophy 0 0 2 0 0 0 2
Ovarian serous cystadenocarcinoma 0 0 0 0 0 2 2
Abnormality of prenatal development or birth 1 0 0 0 0 0 1
Adrenocortical carcinoma, hereditary 0 0 0 0 0 1 1
Bardet-Biedl syndrome 0 1 0 0 0 0 1
COACH syndrome 1; Joubert syndrome 7 0 0 1 0 0 0 1
Ciliopathy 1 0 0 0 0 0 1
Focal segmental glomerulosclerosis 0 0 0 0 1 0 1
HP:0003473; HP:0000508 0 1 0 0 0 0 1
Joubert syndrome 7; COACH syndrome 3 0 1 0 0 0 0 1
Leber congenital amaurosis 0 1 0 0 0 0 1
Meckel-Gruber syndrome 0 1 0 0 0 0 1
Melanoma 0 0 0 0 0 1 1
Microcephaly 0 0 1 0 0 0 1
Nephronophthisis 0 0 0 0 0 1 1
Papillary renal cell carcinoma type 1 0 0 0 0 0 1 1
ROGRIP1L-related disorder 1 0 0 0 0 0 1
Retinitis pigmentosa in ciliopathies, modifier of 1 0 0 0 0 0 1
Sarcoma 0 0 0 0 0 1 1
See cases 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 67
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 217 57 483 820 44 0 1621
Natera, Inc. 20 98 269 16 15 0 418
PreventionGenetics, part of Exact Sciences 4 26 216 114 15 0 375
Fulgent Genetics, Fulgent Genetics 8 82 233 33 1 0 356
GeneDx 12 8 84 55 45 0 204
Ambry Genetics 3 1 166 23 2 0 195
Illumina Laboratory Services, Illumina 0 0 110 13 12 0 123
Eurofins Ntd Llc (ga) 4 0 32 7 9 0 52
CeGaT Center for Human Genetics Tuebingen 2 1 18 23 2 0 46
Breakthrough Genomics, Breakthrough Genomics 0 0 7 16 19 0 42
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 11 15 5 1 0 37
Mayo Clinic Laboratories, Mayo Clinic 1 0 13 9 13 0 36
Genetic Services Laboratory, University of Chicago 0 4 11 11 3 0 29
Revvity Omics, Revvity 6 8 14 0 0 0 28
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 19 19
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 8 5 0 13
Genome-Nilou Lab 0 0 0 0 13 0 13
OMIM 13 0 0 0 0 0 13
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 7 4 0 11
UW Hindbrain Malformation Research Program, University of Washington 11 0 0 0 0 0 11
Baylor Genetics 2 0 8 0 0 0 10
Clinical Genetics, Academic Medical Center 0 0 0 3 7 0 10
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 0 3 2 5 0 10
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 0 0 10 0 0 0 10
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 1 4 2 1 0 8
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 4 0 1 0 6
Gharavi Laboratory, Columbia University 0 0 6 0 0 0 6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 4 0 1 1 0 6
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 6 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 3 2 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 1 1 0 0 0 5
Blueprint Genetics 0 0 4 0 0 0 4
Neurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University 0 0 3 0 0 0 3
3billion 1 0 1 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 2 0 0 0 0 2
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 2 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 0 0 0 0 0 2
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 2 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 2 0 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 2 0 0 0 0 2
Ocular Genomics Institute, Massachusetts Eye and Ear 0 0 2 0 0 0 2
Variantyx, Inc. 2 0 0 0 0 0 2
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 0 1
DBGen Ocular Genomics 0 1 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 0 1 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 1 0 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 0 0 0 0 0 1
GeneReviews 1 0 0 0 0 1 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 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 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
MVZ Martinsried, Medicover Genetics 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 1
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 0 1 0 0 0 0 1

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