ClinVar Miner

Variants in gene NPHS1

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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 drug response total
193 298 334 955 90 3 1620

Condition and significance breakdown #

Total conditions: 19
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Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response total
not provided 162 58 104 932 86 0 1304
Finnish congenital nephrotic syndrome 85 257 141 72 35 0 506
Congenital nephrotic syndrome 1 2 98 11 12 0 124
not specified 0 0 21 13 23 0 53
NPHS1-related condition 5 1 6 30 0 0 42
Focal segmental glomerulosclerosis 1 2 14 14 6 0 37
Inborn genetic diseases 1 0 34 2 0 0 37
Nephrotic syndrome 7 14 2 1 0 0 22
Kidney disorder 0 2 6 0 0 0 8
Proteinuria 0 0 4 1 0 0 5
Corticosteroids response 0 0 0 0 0 3 3
Atypical hemolytic-uremic syndrome 0 0 0 0 2 0 2
Familial idiopathic steroid-resistant nephrotic syndrome 0 1 1 0 0 0 2
Infantile Nephrotic syndrome 1 1 0 0 0 0 2
Microscopic hematuria 0 0 2 0 0 0 2
Congenital and infantile nephrotic syndrome 0 1 0 0 0 0 1
Congenital nephrotic syndrome; Steroid-resistant nephrotic syndrome; Nephrotic range proteinuria 0 1 0 0 0 0 1
Glomerulonephritis 0 0 1 0 0 0 1
See cases 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 72
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response total
Invitae 159 50 70 897 65 0 1241
Baylor Genetics 58 76 3 1 0 0 138
Illumina Laboratory Services, Illumina 6 2 107 11 12 0 138
Natera, Inc. 26 6 45 25 29 0 131
Fulgent Genetics, Fulgent Genetics 14 19 41 43 2 0 119
Counsyl 11 57 31 6 1 0 106
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 103 0 0 0 0 103
GeneDx 9 3 14 31 36 0 93
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 35 19 20 4 10 0 88
PreventionGenetics, part of Exact Sciences 5 1 6 36 18 0 66
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 4 19 14 8 0 45
Athena Diagnostics Inc 10 1 10 4 14 0 39
Ambry Genetics 1 0 34 2 0 0 37
Myriad Genetics, Inc. 2 26 3 0 0 0 31
Genome-Nilou Lab 1 1 6 5 12 0 25
Vasylyeva lab, Texas Tech University Health Sciences Center 11 4 4 0 1 0 20
Revvity Omics, Revvity 6 6 6 0 0 0 18
CeGaT Center for Human Genetics Tuebingen 1 0 5 7 1 0 14
3billion 4 1 8 0 0 0 13
Genome Diagnostics Laboratory, University Medical Center Utrecht 2 0 1 1 8 0 12
Yale Center for Mendelian Genomics, Yale University 1 11 0 0 0 0 12
Blueprint Genetics 1 2 6 1 0 0 10
Sydney Genome Diagnostics, Children's Hospital Westmead 6 3 1 0 0 0 10
OMIM 9 0 0 0 0 0 9
Eurofins Ntd Llc (ga) 1 0 2 0 6 0 9
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 1 1 0 5 0 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 1 3 0 0 0 8
Gharavi Laboratory, Columbia University 1 2 5 0 0 0 8
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 2 0 0 1 4 0 7
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 1 4 0 1 0 7
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 2 1 4 0 0 0 7
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 0 4 1 0 0 6
Mendelics 1 2 1 1 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 2 1 0 0 0 5
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 2 0 0 0 0 4
NIHR Bioresource Rare Diseases, University of Cambridge 1 3 0 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 1 0 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 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 0 0 0 3
Genomics England Pilot Project, Genomics England 1 2 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 0 0 0 2 0 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 1 1 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 2
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 1 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 2 0 0 0 2
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 1 1 0 0 0 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 2 0 0 2
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 0 1 0 2
Pars Genome Lab 0 0 2 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 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 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 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 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 0 1
Precision Medicine Center, Zhengzhou University 0 1 0 0 0 0 1
DASA 1 0 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 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 1

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