ClinVar Miner

Variants in gene RPGRIP1L

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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 risk factor total
95 31 340 202 44 1 626

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Joubert syndrome; Meckel-Gruber syndrome 76 16 155 143 25 0 415
Joubert syndrome 7 17 6 103 10 12 0 148
Meckel syndrome, type 5 4 2 115 4 9 0 134
Nephronophthisis 8 0 0 103 10 12 0 125
Joubert syndrome 6 3 90 6 12 0 116
not provided 12 5 59 25 11 0 110
not specified 0 0 7 50 19 0 60
Joubert syndrome with hepatic defect; Joubert syndrome 7; Meckel syndrome, type 5 1 1 7 0 0 0 9
Joubert syndrome with hepatic defect 1 0 5 0 0 0 6
Nephronophthisis 0 0 4 0 0 0 4
Retinal dystrophy 0 0 4 0 0 0 4
Meckel-Gruber syndrome 0 0 3 0 0 0 3
RPGRIP1L-Related Disorders 0 0 3 0 0 0 3
COACH SYNDROME 3 2 0 0 0 0 0 2
Microcephaly 0 0 1 0 0 0 1
Retinitis pigmentosa in ciliopathies, modifier of 0 0 0 0 0 1 1
See cases 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Invitae 76 16 155 155 26 0 428
Illumina Clinical Services Laboratory,Illumina 0 0 119 13 12 0 132
Natera, Inc. 4 1 87 6 12 0 110
GeneDx 6 3 12 29 21 0 71
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 4 0 32 7 9 0 52
PreventionGenetics, PreventionGenetics 0 0 0 20 11 0 31
Genetic Services Laboratory, University of Chicago 0 1 5 9 3 0 18
OMIM 12 0 0 0 0 1 13
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 12 0 0 0 13
UW Hindbrain Malformation Research Program,University of Washington 11 0 0 0 0 0 11
Baylor Genetics 2 0 8 0 0 0 10
Fulgent Genetics,Fulgent Genetics 1 1 7 0 0 0 9
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 4 2 1 0 8
Gharavi Laboratory,Columbia University 0 0 6 0 0 0 6
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 3 2 0 0 0 5
Blueprint Genetics 0 0 4 0 0 0 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 2 0 0 1 0 3
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
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 2 0 0 0 2
Ocular Genomics Institute, Massachusetts Eye and Ear 0 0 2 0 0 0 2
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 0 0 1 0 0 0 1
Mendelics 0 0 0 0 1 0 1
GeneReviews 1 0 1 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 0 1 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 0 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 1 0 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 1

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