ClinVar Miner

Variants studied for Nephrotic syndrome, type 3

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
20 10 141 24 32 223

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PLCE1 19 9 122 18 25 190
NOC3L, PLCE1 1 1 18 6 7 32
LOC130004381, PLCE1 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 118 15 29 162
Fulgent Genetics, Fulgent Genetics 2 1 25 12 1 41
OMIM 10 0 0 0 0 10
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 7 7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 7 7
Genome-Nilou Lab 0 0 0 0 7 7
Baylor Genetics 1 0 4 0 0 5
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 2 3 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 2 1 0 0 5
Revvity Omics, Revvity Omics 1 2 1 0 0 4
Mendelics 2 1 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 3 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 2 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 2 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 1 0 0 2
Broad Institute Rare Disease Group, Broad Institute 1 1 0 0 0 2
Institute of Human Genetics, Cologne University 0 0 1 0 0 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 1
Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 1
Ege University Pediatric Genetics, Ege University 1 0 0 0 0 1
3billion 1 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 1 0 0 0 0 1

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