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 total
37 154 108 27 25 299

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Finnish congenital nephrotic syndrome 33 149 85 17 7 261
not provided 9 4 17 1 12 42
not specified 0 0 3 10 21 32
Proteinuria 0 0 4 1 0 5
Hereditary nephrotic syndrome 0 1 1 0 0 2
Focal segmental glomerulosclerosis 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Counsyl 12 61 32 6 1 112
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 106 0 0 0 107
Illumina Clinical Services Laboratory,Illumina 4 0 50 11 0 65
Integrated Genetics/Laboratory Corporation of America 13 6 2 1 6 28
Athena Diagnostics Inc 4 0 9 1 13 27
PreventionGenetics 0 0 0 9 18 27
Blueprint Genetics, 2 2 6 1 0 11
OMIM 10 0 0 0 0 10
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 2 0 6 9
Gharavi Laboratory,Columbia University 2 2 5 0 0 9
GeneDx 3 1 3 0 1 8
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 4 4
Fulgent Genetics 1 2 1 0 0 4
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 4 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 2 0 0 0 3
Broad Institute Rare Disease Group,Broad Institute 1 1 1 0 0 3
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 2 0 0 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 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,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

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