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
62 24 130 19 31 2 251

Gene and significance breakdown #

Total genes and gene combinations: 14
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ORC1 12 4 42 8 11 1 75
ORC6 8 4 40 2 4 0 55
CDC6 1 0 27 5 5 0 38
CDT1 9 3 7 2 5 1 26
CDC45 11 9 5 0 0 0 18
ORC4 5 2 2 1 3 0 12
DONSON 6 1 1 0 0 0 8
GMNN 3 1 1 0 0 0 4
MCM5 2 0 1 0 1 0 4
MCM7 4 0 0 0 0 0 4
ORC6, VPS35 0 0 1 1 2 0 3
LOC126805733, ORC1 0 0 2 0 0 0 2
LOC126806366, ORC4 1 0 0 0 0 0 1
MCM3 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 2 105 15 21 0 142
OMIM 35 0 0 0 0 0 35
Bicknell laboratory, University of Otago 20 0 1 0 0 0 21
Baylor Genetics 4 2 6 0 0 0 12
SIB Swiss Institute of Bioinformatics 0 7 3 0 0 0 10
Revvity Omics, Revvity 2 2 5 0 0 0 9
Genome-Nilou Lab 0 0 0 0 9 0 9
Genetic Services Laboratory, University of Chicago 4 2 1 0 0 0 7
Fulgent Genetics, Fulgent Genetics 0 0 1 5 1 0 7
Mendelics 0 0 0 0 4 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 3 0 1 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 2 0 0 0 3
Institute of Human Genetics, University of Goettingen 0 1 1 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 0 0 0 0 2
Centogene AG - the Rare Disease Company 0 0 2 0 0 0 2
Service de Génétique Moléculaire, Hôpital Robert Debré 0 2 0 0 0 0 2
Undiagnosed Diseases Network, NIH 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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 0 0 0 2
Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital 1 1 0 0 0 0 2
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 1 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 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
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1

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