ClinVar Miner

Variants studied for Treacher Collins syndrome 3

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
5 4 26 1 3 38

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 benign total
POLR1C 5 4 22 1 2 33
LOC129996517, POLR1C 0 0 4 0 1 5

Submitter and significance breakdown #

Total submitters: 6
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 1 26 1 3 31
OMIM 5 0 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 1 0 0 0 0 1

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