ClinVar Miner

Variants in gene NPHS1

See also:
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 total
56 158 165 95 54 433

Condition and significance breakdown #

Total conditions: 8
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Finnish congenital nephrotic syndrome 39 151 47 6 7 219
not provided 26 10 21 71 45 167
Congenital nephrotic syndrome 1 2 103 11 12 129
not specified 0 0 3 10 21 32
Proteinuria 0 0 4 1 0 5
Hereditary nephrotic syndrome 0 1 1 0 0 2
Congenital nephrotic syndrome; Steroid-resistant nephrotic syndrome; Nephrotic range proteinuria 0 1 0 0 0 1
Focal segmental glomerulosclerosis 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 32
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 4 0 111 11 12 138
Invitae 20 4 1 69 38 132
Counsyl 13 61 32 6 1 113
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 106 0 0 0 107
Athena Diagnostics Inc 5 1 11 3 13 33
Integrated Genetics/Laboratory Corporation of America 13 6 2 1 6 28
PreventionGenetics,PreventionGenetics 0 0 0 9 18 27
Blueprint Genetics 2 2 6 1 0 11
OMIM 10 0 0 0 0 10
GeneDx 3 1 3 0 2 9
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 2 0 6 9
Gharavi Laboratory,Columbia University 2 2 5 0 0 9
Baylor Genetics 5 1 0 0 0 6
Broad Institute Rare Disease Group,Broad Institute 1 1 4 0 0 6
Mendelics 1 2 1 1 0 5
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 4 4
Fulgent Genetics,Fulgent Genetics 1 2 1 0 0 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 2 0 0 0 4
NIHR Bioresource Rare Diseases, University of Cambridge 1 3 0 0 0 4
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 4 4
Myriad Women's Health, Inc. 3 0 0 0 0 3
Institute of Human Genetics,Klinikum rechts der Isar 1 1 0 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 2 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 0 0 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.