ClinVar Miner

Variants studied for blepharo-cheilo-odontic syndrome

Included ClinVar conditions (3):
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
10 2 15 0 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 total
CDH1 6 0 14 20
CTNND1, TMX2-CTNND1 4 2 1 6

Submitter and significance breakdown #

Total submitters: 7
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Submitter pathogenic likely pathogenic uncertain significance total
Fulgent Genetics,Fulgent Genetics 2 0 9 11
OMIM 7 0 0 7
Baylor Genetics 0 0 4 4
University of Washington Center for Mendelian Genomics, University of Washington 0 0 2 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 1 0 1

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