ClinVar Miner

Variants studied for Meier-Gorlin syndrome

Included ClinVar conditions (9):
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
42 16 117 16 25 2 204

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ORC1 9 3 40 7 11 1 69
ORC6 6 4 39 2 3 0 52
CDC6 1 0 27 5 5 0 38
CDC45 10 6 5 0 0 0 15
CDT1 6 1 3 1 3 1 14
ORC4 5 1 1 0 1 0 7
GMNN 3 1 0 0 0 0 3
MCM5 2 0 1 0 0 0 3
ORC6, VPS35 0 0 1 1 2 0 3

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 2 104 15 21 0 141
OMIM 35 0 0 0 0 0 35
Baylor Genetics 5 1 6 0 0 0 12
SIB Swiss Institute of Bioinformatics 0 6 4 0 0 0 10
Genetic Services Laboratory, University of Chicago 4 2 1 0 0 0 7
Mendelics 0 0 0 0 4 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 2 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 1 0 0 0 0 2
Service de Génétique Moléculaire,Hôpital Robert Debré 0 2 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 2
Genetics Service, Department of Paediatrics,KK Women's and Children's Hospital 1 1 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 1 0 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 1 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 1 0 0 0 0 1

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