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 not provided total
33 8 101 99 24 2 260

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
RAD21 33 8 99 99 24 2 258
EIF3H, RAD21, UTP23 0 0 1 0 0 0 1
LOC130000992, LOC130000993, LOC130000994, MIR3610, RAD21 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 11 2 91 98 23 0 225
OMIM 11 0 0 0 0 0 11
Genetic Services Laboratory, University of Chicago 4 0 2 0 0 0 6
Baylor Genetics 3 0 1 0 0 0 4
Genome-Nilou Lab 0 0 0 0 3 0 3
Mendelics 1 0 0 1 0 0 2
GeneReviews 0 0 0 0 0 2 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 1 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 2 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 2 0 0 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 0 0 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 1
Bondeson Group, Uppsala University 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 0 1
Gharavi Laboratory, Columbia University 0 1 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
Molecular Genetics Laboratory, Motol Hospital 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 1 0 0 0 0 0 1

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