ClinVar Miner

Variants studied for Bardet-Biedl syndrome 18

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
2 0 16 2 0 20

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic uncertain significance likely benign total
BBIP1 2 16 2 20

Submitter and significance breakdown #

Total submitters: 7
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Submitter pathogenic uncertain significance likely benign total
Fulgent Genetics, Fulgent Genetics 0 13 2 15
OMIM 1 0 0 1
Revvity Omics, Revvity Omics 0 1 0 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 1
New York Genome Center 0 1 0 1
Molecular Endocrinology Laboratory, Christian Medical College 0 1 0 1

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