ClinVar Miner

Variants in gene NPHS1

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Minimum submission review status: Collection method:
Minimum conflict level:
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 drug response not provided total
221 377 600 1005 90 3 5 1969

Condition and significance breakdown #

Total conditions: 26
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Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response not provided total
not provided 178 68 129 981 87 0 0 1387
Finnish congenital nephrotic syndrome 110 339 348 76 36 0 0 799
Inborn genetic diseases 2 0 130 12 0 0 0 144
Congenital nephrotic syndrome 1 2 98 11 12 0 0 124
not specified 0 0 46 15 27 0 0 83
NPHS1-related disorder 7 2 8 32 0 0 0 49
Focal segmental glomerulosclerosis 1 2 14 14 6 0 0 37
Nephrotic syndrome 7 16 2 1 0 0 0 24
Kidney disorder 0 2 5 0 0 0 0 7
Proteinuria 0 0 4 1 0 0 0 5
Corticosteroids response 0 0 0 0 0 3 0 3
Atypical hemolytic-uremic syndrome 0 0 0 0 2 0 0 2
Familial idiopathic steroid-resistant nephrotic syndrome 0 1 1 0 0 0 0 2
Infantile Nephrotic syndrome 1 1 0 0 0 0 0 2
Malignant tumor of esophagus 0 0 0 0 0 0 2 2
Microscopic hematuria 0 0 2 0 0 0 0 2
Congenital and infantile nephrotic syndrome 0 1 0 0 0 0 0 1
Congenital nephrotic syndrome; Steroid-resistant nephrotic syndrome; Nephrotic range proteinuria 0 1 0 0 0 0 0 1
Finnish congenital nephrotic syndrome; Focal segmental glomerulosclerosis 0 0 1 0 0 0 0 1
Gastric cancer 0 0 0 0 0 0 1 1
Glomerulonephritis 0 0 1 0 0 0 0 1
Melanoma 0 0 0 0 0 0 1 1
Nonpapillary renal cell carcinoma 0 0 0 0 0 0 1 1
See cases 0 1 0 0 0 0 0 1
Thymoma 0 0 0 0 0 0 1 1
Unexplained young onset end-stage renal disease 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 90
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response not provided total
Labcorp Genetics (formerly Invitae), Labcorp 175 55 83 936 65 0 0 1314
Fulgent Genetics, Fulgent Genetics 26 68 163 45 2 0 0 304
Natera, Inc. 47 70 127 26 29 0 0 299
Baylor Genetics 64 97 3 1 0 0 0 165
Ambry Genetics 2 0 130 12 0 0 0 144
Illumina Laboratory Services, Illumina 6 2 99 11 12 0 0 130
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 41 26 45 6 10 0 0 128
GeneDx 18 7 18 31 36 0 0 110
Counsyl 11 57 31 6 1 0 0 106
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 103 0 0 0 0 0 103
PreventionGenetics, part of Exact Sciences 7 2 8 38 18 0 0 73
Breakthrough Genomics, Breakthrough Genomics 0 0 4 19 24 0 0 47
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 5 18 14 8 0 0 45
Athena Diagnostics 10 1 10 4 14 0 0 39
Myriad Genetics, Inc. 4 30 3 0 0 0 0 37
CeGaT Center for Human Genetics Tuebingen 3 1 7 18 3 0 0 32
Genome-Nilou Lab 1 1 6 5 12 0 0 25
Mayo Clinic Laboratories, Mayo Clinic 1 0 3 6 14 0 0 24
Revvity Omics, Revvity 9 7 6 0 0 0 0 22
Vasylyeva lab, Texas Tech University Health Sciences Center 11 4 4 0 1 0 0 20
3billion 5 4 8 1 0 0 0 18
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 10 3 5 0 0 0 0 18
Neuberg Centre For Genomic Medicine, NCGM 3 5 9 0 0 0 0 17
Genome Diagnostics Laboratory, University Medical Center Utrecht 2 0 1 1 8 0 0 12
Yale Center for Mendelian Genomics, Yale University 1 11 0 0 0 0 0 12
Blueprint Genetics 1 2 6 1 0 0 0 10
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 5 3 0 0 0 0 10
Sydney Genome Diagnostics, Children's Hospital Westmead 6 3 1 0 0 0 0 10
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 2 4 0 1 0 0 9
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 8 0 1 0 0 9
Eurofins Ntd Llc (ga) 1 0 2 0 6 0 0 9
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 1 1 0 5 0 0 9
OMIM 9 0 0 0 0 0 0 9
Genetic Services Laboratory, University of Chicago 1 1 4 2 0 0 0 8
Gharavi Laboratory, Columbia University 1 2 5 0 0 0 0 8
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 2 0 0 1 4 0 0 7
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 0 4 1 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 2 1 0 0 0 0 5
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 0 5 5
Mendelics 1 2 1 1 0 0 0 5
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 2 0 0 0 0 0 4
Dasa 4 0 0 0 0 0 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 2 1 1 0 0 0 0 4
NIHR Bioresource Rare Diseases, University of Cambridge 1 3 0 0 0 0 0 4
Precision Medicine Center, Zhengzhou University 1 1 2 0 0 0 0 4
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 4 0 0 4
Dubai Health Genomic Medicine Center, Dubai Health 0 2 0 0 1 0 0 3
Genetic Testing Lab, Ashok and Rita Patel Institute of Integrated Study and Research in Biotechnology and Allied Sciences 0 0 0 0 0 3 0 3
Genomics England Pilot Project, Genomics England 1 2 0 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 2 0 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 1 0 0 0 0 3
Variantyx, Inc. 0 3 0 0 0 0 0 3
Clinical Genetics Laboratory, Skane University Hospital Lund 2 0 0 0 0 0 0 2
Department of Reproductive Genetics, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine 0 2 0 0 0 0 0 2
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 1 1 0 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 0 0 0 0 0 2
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 2 0 0 0 0 0 2
Genetics laboratory, Institute of Kidney Diseases & Research Centre Dr. H.L. Trivedi Institute Of Transplantation Sciences 1 0 1 0 0 0 0 2
Institute of Human Genetics Munich, TUM University Hospital 1 1 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 0 0 0 2
Intergen Genetics and Rare Diseases Diagnosis Center 0 1 1 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 0 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 1 0 0 0 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 2 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 0 0 0 0 2
MVZ Medizinische Genetik Mainz 1 0 1 0 0 0 0 2
Medical and Scientific Branch, Hong Kong Genome Institute 1 0 1 0 0 0 0 2
Pars Genome Lab 0 0 2 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 2 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 1 0 0 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 0 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 0 0 0 0 0 0 1
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 0 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 0 1
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 1 0 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 0 1
Molecular Genetics Laboratory, Motol Hospital 0 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 0 0 1

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