ClinVar Miner

Variants studied for Bardet-Biedl syndrome 14

Included ClinVar conditions (7):
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 risk factor not provided total
149 197 291 83 22 1 1 728

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
CEP290 129 174 239 59 22 0 1 612
TMEM67 13 4 44 23 0 1 0 84
CEP290, RLIG1 5 17 7 0 0 0 0 26
CEP290, LOC129390514 2 2 1 1 0 0 0 6

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Fulgent Genetics, Fulgent Genetics 63 35 189 77 0 0 0 364
Baylor Genetics 124 173 5 0 0 0 0 302
Illumina Laboratory Services, Illumina 0 0 108 6 16 0 0 130
Genome-Nilou Lab 0 0 10 0 6 0 0 16
New York Genome Center 0 0 3 0 0 0 0 3
Suma Genomics 2 0 1 0 0 0 0 3
OMIM 1 0 0 0 0 1 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 0 0 2
3billion 1 0 1 0 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 0 2
Molecular Endocrinology Laboratory, Christian Medical College 0 0 2 0 0 0 0 2
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 0 2 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Tolun Lab, Human Genetics Laboratory, Bogazici University 0 0 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 0 1

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