ClinVar Miner

Variants studied for nephrotic syndrome, type 9

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 not provided total
16 9 15 2 3 11 42

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
COQ8B 16 9 15 2 3 11 42

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Precision Medicine Center, Zhengzhou University 5 2 5 0 0 0 12
GeneReviews 0 0 0 0 0 11 11
OMIM 7 0 0 0 0 0 7
Baylor Genetics 1 0 3 0 0 0 4
Revvity Omics, Revvity 1 0 3 0 0 0 4
Molecular Biology Laboratory, Fundació Puigvert 1 3 0 0 0 0 4
3billion 1 1 2 0 0 0 4
Fulgent Genetics, Fulgent Genetics 0 0 1 2 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 1 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Mendelics 1 0 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Indian Institute of Integrative Medicine, Council of Scientific and Industrial Research 1 0 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 0 1 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Arcensus 0 1 0 0 0 0 1

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