ClinVar Miner

Variants studied for Bardet-Biedl syndrome 16

Included ClinVar conditions (2):
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
38 24 277 193 17 526

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
SDCCAG8 35 23 256 170 15 477
AKT3, SDCCAG8 0 1 19 22 2 43
CEP170, SDCCAG8 2 0 1 0 0 3
ADSS2, AKT3, CATSPERE, CEP170, COX20, DESI2, HNRNPU, SDCCAG8, SPMIP3, ZBTB18 0 0 1 0 0 1
AKT3, AKT3-IT1, CEP170, LINC01347, LOC110120698, LOC122152350, LOC122152351, LOC122152352, LOC122152353, LOC126806071, LOC126806072, LOC126806073, LOC126806074, LOC129388799, MIR4677, PLD5, SDCCAG8 1 0 0 0 0 1
PDE11A 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 32 14 246 187 15 494
Fulgent Genetics, Fulgent Genetics 2 4 49 19 0 74
Illumina Laboratory Services, Illumina 0 0 37 4 5 46
Genome-Nilou Lab 0 0 0 0 5 5
OMIM 4 0 0 0 0 4
Baylor Genetics 0 0 3 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 1 0 1 0 3
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 1 0 0 0 2
New York Genome Center 0 0 2 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 1 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Laboratory of Molecular Oncology, N.N. Petrov Institute of Oncology 0 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 1
3billion 1 0 0 0 0 1
Molecular Endocrinology Laboratory, Christian Medical College 0 0 1 0 0 1

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