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
62 274 248 84 53 4 647

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 59 274 247 84 53 4 643
LOC110120801, MIR599, MIR875, VPS13B 2 0 0 0 0 0 2
LOC113783876, VPS13B 0 0 1 0 0 0 1
MIR599, MIR875, VPS13B 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Counsyl 5 200 59 20 0 0 284
Invitae 23 1 68 32 42 0 166
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 4 2 19 1 0 0 26
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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 13 0 0 0 13
Integrated Genetics/Laboratory Corporation of America 4 7 0 0 0 0 11
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 2 6 0 0 0 0 8
Genetic Services Laboratory, University of Chicago 6 0 0 0 0 0 6
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 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 Miraca Genetics Laboratories, 2 0 1 0 0 0 3
GeneReviews 3 0 0 0 0 0 3
Genomic Research Center,Shahid Beheshti University of Medical Sciences 2 1 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
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
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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 1 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 0 1

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