ClinVar Miner

Variants studied for Cohen syndrome

Included ClinVar conditions (1):
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
87 288 312 60 21 4 713

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
VPS13B 82 288 311 60 21 4 707
LOC110120801, MIR599, MIR875, VPS13B 3 0 0 0 0 0 3
MIR599, MIR875, VPS13B 2 0 0 0 0 0 2
LOC113783876, VPS13B 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Counsyl 5 210 59 20 0 0 294
Invitae 45 6 136 4 6 0 197
Illumina Clinical Services Laboratory,Illumina 0 0 114 27 4 0 145
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 77 0 0 0 0 77
Fulgent Genetics,Fulgent Genetics 4 2 19 1 0 0 26
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 17 0 0 0 17
OMIM 16 0 0 0 0 0 16
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 14 0 15
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 4 10 0 14
Integrated Genetics/Laboratory Corporation of America 4 7 0 0 0 0 11
Mendelics 3 0 3 4 1 0 11
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 8 0 0 0 0 10
Genetic Services Laboratory, University of Chicago 6 0 0 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 1 1 0 0 0 5
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 4 0 0 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 1 3 0 4
Baylor Genetics 2 0 1 0 0 0 3
GeneReviews 3 0 0 0 0 0 3
Athena Diagnostics Inc 0 0 0 0 2 0 2
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 2 0 0 0 0 0 2
Institute of Human Genetics,Klinikum rechts der Isar 1 1 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 2 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 0 0 0 0 0 2
Centre de Biologie Pathologie Génétique,Centre Hospitalier Universitaire de Lille 2 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 1 0 0 0 0 2
Broad Institute Rare Disease Group,Broad Institute 1 1 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health: University of Minnesota 0 2 0 0 0 0 2
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 1 0 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 1 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Sharon lab,Hadassah-Hebrew University Medical Center 1 0 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 0 1
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 1 0 0 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 0 0 0 0 1 0 1

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