ClinVar Miner

Variants studied for Verheij syndrome

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
19 5 1 0 0 1 24

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance not provided total
PUF60 18 5 1 1 23
CYC1, EPPK1, EXOSC4, GPAA1, GRINA, HGH1, MAF1, MIR661, NRBP2, OPLAH, PARP10, PLEC, PUF60, SCRIB, SHARPIN, SPATC1 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance not provided total
OMIM 7 0 0 0 7
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 4 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 1 0 3
Baylor Genetics 2 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 2
Integrated Genetics/Laboratory Corporation of America 0 1 0 0 1
Mendelics 1 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 1
GenomeConnect, ClinGen 0 0 0 1 1
SBielas Lab, Department of Human Genetics,University of Michigan 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 1 0 0 0 1
Clinical Genomics Program,Stanford Medicine 1 0 0 0 1

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