ClinVar Miner

Variants studied for Cornelia de Lange syndrome 4

Coded as:
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
9 2 6 3 2 22

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
RAD21 9 2 6 3 2 22

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Genetic Services Laboratory, University of Chicago 4 0 2 0 0 6
Invitae 0 0 2 2 2 6
OMIM 2 0 0 0 0 2
Baylor Miraca Genetics Laboratories, 2 0 0 0 0 2
GeneReviews 2 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 2 0 0 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 1 0 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 0 1
Bondeson Group,Uppsala University 0 1 0 0 0 1

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