ClinVar Miner

Variants in gene NPHP4

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Minimum submission review status: Collection method:
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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 not provided total
86 59 923 629 139 4 1603

Condition and significance breakdown #

Total conditions: 20
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Nephronophthisis 67 24 670 532 76 2 1366
not provided 14 10 326 46 62 0 441
Nephronophthisis 4; Senior-Loken syndrome 4 6 11 203 37 0 1 257
Nephronophthisis 4 15 6 120 18 34 0 190
Senior-Loken syndrome 4 5 2 108 18 33 0 166
NPHP4-related condition 3 1 44 108 3 0 159
not specified 0 0 11 27 56 0 89
Inborn genetic diseases 0 0 78 5 0 0 83
Kidney disorder 1 1 9 10 5 0 26
Retinal dystrophy 0 2 5 0 0 0 7
Bardet-Biedl syndrome 0 0 5 0 0 0 5
Renal dysplasia and retinal aplasia 0 0 4 1 0 0 5
NPHP4-Related Disorders 0 0 3 0 0 1 4
Leber congenital amaurosis 0 0 2 0 0 0 2
Retinitis pigmentosa 0 2 0 0 0 0 2
Atypical hemolytic-uremic syndrome 0 0 0 1 0 0 1
Cholestasis 0 0 1 0 0 0 1
Congenital anomaly of kidney and urinary tract 0 1 0 0 0 0 1
Focal segmental glomerulosclerosis 0 0 0 0 1 0 1
Infertility disorder; Cerebello-oculo-renal syndrome (nephronophthisis, oculomotor apraxia and cerebellar abnormalities) 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 60
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 67 21 664 539 76 0 1367
Eurofins Ntd Llc (ga) 7 1 283 15 28 0 334
Fulgent Genetics, Fulgent Genetics 6 10 203 37 0 0 256
PreventionGenetics, part of Exact Sciences 3 1 44 117 30 0 195
Illumina Laboratory Services, Illumina 0 0 117 27 34 0 165
GeneDx 2 3 26 1 59 0 91
Ambry Genetics 0 0 78 5 0 0 83
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 8 19 10 0 37
Genome Diagnostics Laboratory, The Hospital for Sick Children 1 1 9 11 6 0 28
Clinical Genetics, Academic Medical Center 0 0 6 5 17 0 28
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 1 11 13 0 25
CeGaT Center for Human Genetics Tuebingen 1 0 5 13 3 0 22
Mayo Clinic Laboratories, Mayo Clinic 0 0 16 0 0 0 16
Genetic Services Laboratory, University of Chicago 0 0 6 5 1 0 12
Genome-Nilou Lab 0 0 0 0 11 0 11
Gharavi Laboratory, Columbia University 1 4 5 0 0 0 10
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 7 1 0 9
Sydney Genome Diagnostics, Children's Hospital Westmead 4 2 3 0 0 0 9
Baylor Genetics 0 1 7 0 0 0 8
Revvity Omics, Revvity 3 1 4 0 0 0 8
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 7 0 1 0 8
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 3 0 5 0 8
OMIM 7 0 0 0 0 0 7
Blueprint Genetics 0 2 5 0 0 0 7
Mendelics 0 0 1 1 3 0 5
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 0 0 5 0 0 0 5
AiLife Diagnostics, AiLife Diagnostics 0 0 5 0 0 0 5
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 2 0 0 0 0 4
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 0 3 0 4
Molecular Biology Laboratory, Fundació Puigvert 3 1 0 0 0 0 4
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 3 0 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 2 0 0 0 3
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 3 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 2 0 0 1 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 1 0 0 0 2
Molecular Diagnostics Laboratory, Seoul National University Hospital 0 0 2 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 1 0 0 0 2
GeneReviews 0 0 0 0 0 2 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 2 0 0 0 0 0 2
Ocular Genomics Institute, Massachusetts Eye and Ear 0 0 2 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 1 1 0 0 0 2
Bionano Laboratories 1 0 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 0 1 0 0 0 0 1
Tolun Lab, Human Genetics Laboratory, Bogazici University 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
3billion 1 0 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 0 0 0 0 1
Eurofins-Biomnis 0 1 0 0 0 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 1 0 0 0 0 0 1

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