ClinVar Miner

Variants studied for Treacher-Collins syndrome

Included ClinVar conditions (6):
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 not provided total
65 9 47 39 48 1 203

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TCOF1 49 5 20 38 45 1 153
POLR1C 6 4 27 1 3 0 40
POLR1D 7 0 0 0 0 0 7
POLR1B 3 0 0 0 0 0 3

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 34 4 14 18 39 0 109
Illumina Clinical Services Laboratory,Illumina 0 1 26 1 3 0 31
OMIM 26 0 0 0 0 0 26
Genetics Laboratories, Oxford Radcliffe Hospitals NHS Trust 0 0 2 19 5 0 26
Mendelics 2 0 1 1 1 0 5
Johns Hopkins Genomics,Johns Hopkins University 3 0 1 1 0 0 5
Genetic Services Laboratory,University of Chicago 3 0 0 0 0 0 3
Baylor Genetics 1 0 1 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 1 0 0 0 2
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 1 0 0 0 0 0 1

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