ClinVar Miner

Variants studied for bardet-biedl syndrome 21

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
3 3 17 3 0 26

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
CFAP418 2 2 12 2 18
CFAP418, LOC130000784 1 1 5 1 8

Submitter and significance breakdown #

Total submitters: 4
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
Fulgent Genetics, Fulgent Genetics 1 1 16 3 21
OMIM 2 0 0 0 2
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 2 0 0 2
Tolun Lab, Human Genetics Laboratory, Bogazici University 0 0 1 0 1

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