ClinVar Miner

Variants in gene ORC1

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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
23 16 181 149 37 1 362

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 12 8 107 131 36 0 286
Meier-Gorlin syndrome 1 13 6 43 9 11 1 79
Inborn genetic diseases 0 4 59 6 0 0 69
not specified 0 0 12 10 7 0 28
ORC1-related disorder 1 1 1 10 3 0 16
Meier-Gorlin syndrome 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 12 6 102 123 24 0 267
Ambry Genetics 0 4 59 6 0 0 69
Illumina Laboratory Services, Illumina 0 1 35 7 11 0 54
Genetic Services Laboratory, University of Chicago 1 1 15 10 7 0 34
Breakthrough Genomics, Breakthrough Genomics 0 0 1 6 18 0 25
PreventionGenetics, part of Exact Sciences 1 1 1 10 3 0 16
GeneDx 0 1 0 0 14 0 15
CeGaT Center for Human Genetics Tuebingen 0 0 0 10 1 0 11
OMIM 7 0 0 0 0 0 7
Department of Pathology and Laboratory Medicine, Sinai Health System 0 3 2 0 0 0 5
Baylor Genetics 1 1 2 0 0 0 4
Fulgent Genetics, Fulgent Genetics 1 0 0 3 0 0 4
Revvity Omics, Revvity 2 0 1 0 0 0 3
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 1 1 0 3
Bicknell laboratory, University of Otago 3 0 0 0 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 2 0 0 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 2 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 1 0 2
3billion 0 1 0 1 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 1 0 0 0 1
Eurofins Ntd Llc (ga) 0 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 1 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 1 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 1 0 0 0 1

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