ClinVar Miner

Variants studied for Finnish congenital nephrotic syndrome

Coded as:
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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
93 281 160 83 43 570

Gene and significance breakdown #

Total genes and gene combinations: 12
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
NPHS1 84 257 141 72 35 506
KIRREL2, NPHS1 6 22 13 9 7 50
ALG1 0 1 1 0 0 2
NPHS2 1 0 1 0 0 2
TTC21B 1 0 1 0 0 2
WT1 0 0 2 0 0 2
ABCC6 0 0 0 1 0 1
ARHGDIA 0 0 1 0 0 1
FAT1, LOC126807255 0 1 0 0 0 1
NPHS1, PRODH2 1 0 0 0 0 1
PROS1 0 0 0 0 1 1
SPINK1 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 52
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Baylor Genetics 62 83 4 1 0 150
Natera, Inc. 28 6 48 29 34 145
Fulgent Genetics, Fulgent Genetics 15 19 43 45 3 125
Counsyl 11 61 31 8 1 112
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 108 0 0 0 109
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 37 19 0 0 0 56
Myriad Genetics, Inc. 3 34 5 0 0 42
Genome-Nilou Lab 1 1 7 6 13 28
Vasylyeva lab, Texas Tech University Health Sciences Center 13 3 7 0 1 24
Revvity Omics, Revvity Omics 6 6 6 0 0 18
Illumina Laboratory Services, Illumina 6 2 9 1 0 18
3billion 4 1 8 0 0 13
Broad Institute Rare Disease Group, Broad Institute 2 1 4 2 2 11
OMIM 10 0 0 0 0 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 1 4 0 0 9
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 4 2 2 0 0 8
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 2 1 4 0 0 7
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
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 4 4
Blueprint Genetics 2 1 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 1 0 0 3
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 3 0 0 3
Genomics England Pilot Project, Genomics England 1 2 0 0 0 3
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 1 1 0 0 2
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 1 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 0 0 0 2
Reproductive Health Research and Development, BGI Genomics 1 0 1 0 0 2
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 0 1 2
Pars Genome Lab 0 0 2 0 0 2
Precision Medicine Center, Zhengzhou University 0 1 1 0 0 2
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 1 0 0 0 1
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
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 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
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 1
DASA 1 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 0 0 1

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