ClinVar Miner

Variants in gene CEP85L

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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 total
8 11 84 25 2 124

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Inborn genetic diseases 0 0 37 11 0 48
not provided 2 1 31 10 0 43
Lissencephaly 10 4 4 14 1 2 24
CEP85L-related disorder 0 0 2 5 0 7
Posterior Predominant Lissencephaly 0 7 0 0 0 7
not specified 0 0 3 0 0 3
Lissencephaly 0 1 1 0 0 2
Lissencephaly; Thick corpus callosum 1 0 0 0 0 1
Neurodevelopmental disorder 1 0 0 0 0 1
See cases 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Ambry Genetics 0 0 37 11 0 48
GeneDx 1 1 21 0 0 23
CeGaT Center for Human Genetics Tuebingen 0 0 5 10 0 15
PreventionGenetics, part of Exact Sciences 0 0 2 5 0 7
University of Washington Center for Mendelian Genomics, University of Washington 0 7 0 0 0 7
Revvity Omics, Revvity 0 0 5 0 0 5
OMIM 4 0 0 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 3 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 0 3 0 0 3
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 2 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 2
Genome-Nilou Lab 0 0 0 0 2 2
Breakthrough Genomics, Breakthrough Genomics 0 0 2 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 0 1
MGZ Medical Genetics Center 0 0 1 0 0 1
Labcorp Genetics (formerly Invitae), Labcorp 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 1 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 1
ISCA Site 6 0 0 1 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 0 0 0 1
Genetics Institute, Tel Aviv Sourasky Medical Center 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 1
3billion 0 1 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 1 0 0 0 1

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