ClinVar Miner

Variants studied for congenital nephrotic syndrome, Finnish type

Included ClinVar conditions (1):
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
47 159 92 29 29 311

Gene and significance breakdown #

Total genes and gene combinations: 9
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
NPHS1 46 153 84 24 26 292
KIRREL2, NPHS1 0 4 5 3 2 10
ALG1 0 1 1 0 0 2
TTC21B 1 0 1 0 0 2
ABCC6 0 0 0 1 0 1
ARHGDIA 0 0 1 0 0 1
FAT1 0 1 0 0 0 1
PROS1 0 0 0 0 1 1
SPINK1 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 33
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Counsyl 11 62 32 8 1 114
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 108 0 0 0 109
Natera, Inc. 13 2 39 18 27 99
Integrated Genetics/Laboratory Corporation of America 22 6 0 0 0 28
Illumina Clinical Services Laboratory,Illumina 4 0 8 1 0 13
OMIM 10 0 0 0 0 10
Baylor Genetics 6 1 3 0 0 10
Broad Institute Rare Disease Group, Broad Institute 1 1 4 2 2 10
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 4 2 2 0 0 8
Mendelics 1 2 1 1 0 5
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 2 1 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,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
Myriad Women's Health, Inc. 3 0 0 0 0 3
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 2 0 0 0 0 2
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
Precision Medicine Center,Zhengzhou University 0 1 1 0 0 2
Institute of Human Genetics,Cologne University 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 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
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 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
Pars Genome Lab 0 0 1 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.