ClinVar Miner

Variants studied for congenital and infantile nephrotic syndrome

Included ClinVar conditions (5):
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
57 158 230 41 27 468

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
NPHS1 33 149 85 17 7 261
LAMB2 15 3 138 20 20 182
KIRREL2, NPHS1 0 4 5 4 0 12
SGPL1 8 1 0 0 0 9
TTC21B 1 0 1 0 0 2
ALG1 0 1 0 0 0 1
ARHGDIA 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 4 0 107 21 0 132
Invitae 2 0 89 12 20 123
Counsyl 12 63 32 8 1 116
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 108 0 0 0 109
OMIM 29 0 0 0 0 29
Integrated Genetics/Laboratory Corporation of America 13 6 0 0 0 19
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 3 4 2 0 0 9
Fulgent Genetics,Fulgent Genetics 1 2 3 0 0 6
Athena Diagnostics Inc 0 0 0 0 4 4
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 4 4
Blueprint Genetics 3 1 0 0 0 4
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 4 4
Broad Institute Rare Disease Group,Broad Institute 1 1 2 0 0 4
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 3 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 0 1
Institute of Human Genetics,Cologne University 1 0 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 0 1 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 0 0 0 1
University of Washington Center for Mendelian Genomics,University of Washington 0 1 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
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 1 0 0 0 1

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