ClinVar Miner

Variants in gene CEP83

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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
37 9 223 213 40 1 506

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Nephronophthisis 18 36 3 195 188 12 0 433
not provided 4 5 22 27 33 0 86
Inborn genetic diseases 0 0 48 2 0 0 50
CEP83-related disorder 0 0 1 10 0 0 11
Ciliopathy 0 1 1 0 0 0 2
Megacolon 0 0 1 0 0 0 1
Nephronophthisis 0 0 0 0 0 1 1
not specified 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 33 1 193 192 12 0 431
GeneDx 2 3 16 11 32 0 64
Ambry Genetics 0 0 48 2 0 0 50
Breakthrough Genomics, Breakthrough Genomics 0 0 2 9 15 0 26
PreventionGenetics, part of Exact Sciences 0 0 1 10 0 0 11
CeGaT Center for Human Genetics Tuebingen 0 1 2 5 1 0 9
OMIM 7 0 0 0 0 0 7
Baylor Genetics 1 0 2 0 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 1 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 2
Clinical Genetics and Genomics, Karolinska University Hospital 1 1 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 1 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 1 0 0 0 2
Molecular and Bioinformatics Technologies Lab, AOU Meyer 0 2 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 1 0 0 0 0 0 1
Clinical Genetics, Erasmus University Medical Center 0 0 1 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 1
3billion 0 0 0 1 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1

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