ClinVar Miner

Variants studied for 8q24.3 microdeletion 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
20 8 4 0 1 1 31

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign not provided total
PUF60 19 8 4 1 1 30
CYC1, EPPK1, EXOSC4, GPAA1, GRINA, HGH1, MAF1, MIR661, NRBP2, OPLAH, PARP10, PLEC, PUF60, SCRIB, SHARPIN, SPATC1 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance benign not provided total
OMIM 7 0 0 0 0 7
Baylor Genetics 3 0 3 0 0 6
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 4 0 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 1 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 3 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 2
Integrated Genetics/Laboratory Corporation of America 0 1 0 0 0 1
Mendelics 1 0 0 0 0 1
Blueprint Genetics 0 1 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 0 1 0 1
GenomeConnect, ClinGen 0 0 0 0 1 1
SBielas Lab, Department of Human Genetics,University of Michigan 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 1 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 1 0 0 0 0 1

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