ClinVar Miner

Variants in gene NPHP1

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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 not provided total
95 76 423 418 60 1 985

Condition and significance breakdown #

Total conditions: 22
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Nephronophthisis 70 18 264 350 24 1 727
not provided 11 2 100 51 37 0 192
Joubert syndrome with renal defect; Nephronophthisis 1; Senior-Loken syndrome 1 10 29 124 15 0 0 177
Joubert syndrome with renal defect 10 41 43 4 4 0 102
NPHP1-related disorder 3 2 46 47 2 0 100
Nephronophthisis 1 13 2 42 4 4 0 65
Inborn genetic diseases 3 0 44 12 0 0 59
Senior-Loken syndrome 1 1 0 36 6 4 0 47
not specified 0 0 9 17 17 0 34
Joubert syndrome and related disorders 6 5 0 0 0 0 11
Retinal dystrophy 1 1 8 0 0 0 10
Kidney disorder 0 0 1 2 0 0 3
Joubert syndrome 0 0 2 0 0 0 2
Renal dysplasia and retinal aplasia 0 0 2 0 0 0 2
Bardet-Biedl syndrome 1 0 0 0 0 0 1
Bardet-Biedl syndrome 1 0 0 1 0 0 0 1
Congenital anomaly of kidney and urinary tract 1 0 0 0 0 0 1
Focal segmental glomerulosclerosis 0 0 0 0 1 0 1
Intellectual disability, X-linked 102 0 0 0 0 1 0 1
Joubert syndrome 1 0 0 0 0 1 0 1
Leber congenital amaurosis 0 0 1 0 0 0 1
See cases 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 52
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 69 17 263 353 24 0 726
Fulgent Genetics, Fulgent Genetics 9 28 121 15 0 0 173
PreventionGenetics, part of Exact Sciences 2 1 46 51 12 0 112
GeneDx 3 0 37 35 36 0 111
Eurofins Ntd Llc (ga) 6 0 70 7 8 0 91
Ambry Genetics 3 0 44 12 0 0 59
Baylor Genetics 10 41 4 0 0 0 55
Illumina Laboratory Services, Illumina 1 0 40 6 4 0 49
Breakthrough Genomics, Breakthrough Genomics 0 0 2 14 17 0 33
CeGaT Center for Human Genetics Tuebingen 4 1 2 14 2 0 23
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 6 6 7 2 1 0 22
Genetic Services Laboratory, University of Chicago 4 0 2 4 2 0 12
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 1 1 8 0 0 0 10
Mayo Clinic Laboratories, Mayo Clinic 0 0 6 0 0 0 6
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 1 0 2 3 0 6
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 1 3 0 5
OMIM 4 0 0 0 0 0 4
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 0 1 2 1 0 4
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 3 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 3 0 0 0 4
Revvity Omics, Revvity 1 0 2 0 0 0 3
Yale Center for Mendelian Genomics, Yale University 3 0 0 0 0 0 3
Clinical Genetics, Academic Medical Center 1 0 0 0 1 0 2
GeneReviews 1 0 0 0 0 1 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 0 2
Advanced Center For Translational And Genetic Medicine, Ann & Robert H. Lurie Children's Hospital Of Chicago 1 0 1 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 0 0 0 0 2
Sydney Genome Diagnostics, Children's Hospital Westmead 1 1 0 0 0 0 2
3billion 2 0 0 0 0 0 2
MVZ Medizinische Genetik Mainz 1 0 1 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
MGZ Medical Genetics Center 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, Seoul National University Hospital 0 0 1 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 0 1
Gharavi Laboratory, Columbia University 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 1 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Molecular Biology Laboratory, Fundació Puigvert 1 0 0 0 0 0 1
Precision Medicine Center, Zhengzhou University 0 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 1 0 0 0 0 0 1

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