ClinVar Miner

Variants studied for Cornelia de Lange syndrome 3

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
11 17 57 19 24 116

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SMC3 11 17 57 19 24 116

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 26 13 20 59
Invitae 0 1 8 5 12 26
Genetic Services Laboratory, University of Chicago 0 7 16 0 0 23
OMIM 9 0 0 0 0 9
Baylor Genetics 0 4 1 0 0 5
Clinical Genetics laboratory, University of Goettingen 0 0 2 0 0 2
Mendelics 0 1 0 1 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 1 0 2
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 0 1 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 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
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 1
Biochemistry Laboratory of CDMU,Chengde Medical University 1 0 0 0 0 1

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