ClinVar Miner

Variants studied for Rothmund-Thomson syndrome

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 total
14 9 58 0 1 81

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
RECQL4 11 5 57 0 73
ANAPC1 3 4 1 1 8

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance benign total
Fulgent Genetics,Fulgent Genetics 1 0 36 0 37
Baylor Genetics 1 0 23 0 24
OMIM 12 0 0 0 12
CHU Sainte-Justine Research Center,University of Montreal 0 4 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 2 0 0 3
Genetic Services Laboratory, University of Chicago 1 0 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 1
Laboratory of Molecular Oncology,N.N. Petrov Institute of Oncology 0 0 1 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 1
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 0 0 1 0 1
Nilou-Genome Lab 0 0 0 1 1

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