ClinVar Miner

Variants studied for blepharocheilodontic syndrome 2

Included ClinVar conditions (1):
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
6 5 3 0 1 14

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
CTNND1, TMX2-CTNND1 6 5 3 1 14

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance benign total
OMIM 3 0 0 0 3
Baylor Genetics 1 0 1 0 2
Revvity Omics, Revvity 1 0 1 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 1 0 0 1
Genome-Nilou Lab 0 0 0 1 1
3billion 0 1 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 1
Obstetrics And Gynecology, 901th Hospital Of The Joint Service Of The People's Liberation Army 1 0 0 0 1

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