ClinVar Miner

Variants studied for Bardet-Biedl syndrome 14

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
3 0 110 6 16 135

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic uncertain significance likely benign benign total
CEP290 3 103 6 16 128
C12orf29, CEP290 0 6 0 0 6
TMEM67 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 5
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Submitter pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 108 6 16 130
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 0 0 2
OMIM 1 0 0 0 1
Genetic Services Laboratory,University of Chicago 1 0 0 0 1
Tolun Lab, Human Genetics Laboratory,Bogazici University 0 1 0 0 1

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