ClinVar Miner

Variants studied for Pierre Robin syndrome associated with branchial archs anomalies

Included ClinVar conditions (5):
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
62 6 17 32 25 1 140

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 27 3 10 23 21 1 83
SF3B4 23 0 6 9 4 0 42
POLR1C 5 3 1 0 0 0 8
POLR1D 7 0 0 0 0 0 7

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 15 2 6 4 16 0 43
OMIM 28 0 0 0 0 0 28
Genetics Laboratories, Oxford Radcliffe Hospitals NHS Trust 0 0 2 19 5 0 26
Illumina Clinical Services Laboratory,Illumina 0 1 7 9 4 0 21
Clinical Genetics Research Group, University of Calgary 18 0 0 0 0 0 18
Genetic Services Laboratory, University of Chicago 7 0 0 0 0 0 7
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
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 1 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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