ClinVar Miner

Variants studied for Acrofacial dysostosis, Cincinnati type

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 5 1 0 9

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic uncertain significance likely benign total
POLR1A 3 5 1 9

Submitter and significance breakdown #

Total submitters: 7
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Submitter pathogenic uncertain significance likely benign total
OMIM 2 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 2 0 2
Baylor Genetics 0 1 0 1
Mendelics 0 0 1 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 1
Biochemistry Laboratory of CDMU,Chengde Medical University 1 0 0 1

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