ClinVar Miner

Variants studied for Finnish congenital nephrotic syndrome

Coded as:
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
40 157 96 21 7 282

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
NPHS1 39 151 88 17 7 265
KIRREL2, NPHS1 0 4 6 4 0 12
TTC21B 1 0 1 0 0 2
ALG1 0 1 0 0 0 1
ARHGDIA 0 0 1 0 0 1
FAT1 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Counsyl 13 63 32 8 1 117
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
Baylor Genetics 5 1 0 0 0 6
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 2 2 0 0 6
Broad Institute Rare Disease Group,Broad Institute 1 1 4 0 0 6
Mendelics 1 2 1 1 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,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
Institute of Human Genetics,Klinikum rechts der Isar 1 1 0 0 0 2
Reproductive Health Research and Development,BGI Genomics 1 0 1 0 0 2
Institute of Human Genetics,Cologne University 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, 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

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