ClinVar Miner

Variants studied for Cornelia de Lange syndrome 2

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
29 25 32 3 9 90

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SMC1A 29 25 31 3 9 89
IQSEC2, SMC1A 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 5 4 22 3 9 43
Genetic Services Laboratory, University of Chicago 9 12 6 0 0 27
Baylor Miraca Genetics Laboratories, 8 4 2 0 0 14
OMIM 6 0 0 0 0 6
Center for Human Genetics,University Hospitals Case Medical Center/Case Western Reserve University 2 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 2 0 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 2 0 0 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 1 0 0 0 1
Fulgent Genetics 0 0 1 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 1 0 0 0 0 1
Center for Human Genetics,University of Leuven 0 1 0 0 0 1
Centre de Biologie Pathologie Génétique,Centre Hospitalier Universitaire de Lille 1 0 0 0 0 1
Laboratoire de Cytogenetique,Hospices Civils de Lyon 0 0 1 0 0 1

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