ClinVar Miner

Variants studied for Rothmund-Thomson syndrome

Included ClinVar conditions (2):
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
10 3 37 0 0 50

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
RECQL4 10 3 37 50

Submitter and significance breakdown #

Total submitters: 7
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Submitter pathogenic likely pathogenic uncertain significance total
Fulgent Genetics 1 0 36 37
OMIM 9 0 0 9
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 1 2 0 3
Baylor Genetics 1 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 1
Laboratory of Molecular Oncology,N.N. Petrov Institute of Oncology 0 0 1 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 1

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