ClinVar Miner

Variants studied for Finnish congenital nephrotic syndrome

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
33 154 92 21 7 276

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
NPHS1 33 149 85 17 7 261
KIRREL2, NPHS1 0 4 5 4 0 12
ALG1 0 1 0 0 0 1
ARHGDIA 0 0 1 0 0 1
TTC21B 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Counsyl 12 63 32 8 1 116
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 108 0 0 0 109
Illumina Clinical Services Laboratory,Illumina 4 0 53 13 0 70
Integrated Genetics/Laboratory Corporation of America 13 6 0 0 0 19
OMIM 10 0 0 0 0 10
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 2 2 0 0 5
Athena Diagnostics Inc 0 0 0 0 4 4
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
Blueprint Genetics, 2 1 0 0 0 3
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 3 0 0 3
Broad Institute Rare Disease Group,Broad Institute 1 1 1 0 0 3
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

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