ClinVar Miner

Variants in gene CCNO

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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
18 10 87 80 10 195

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Primary ciliary dyskinesia 14 4 58 69 8 153
Inborn genetic diseases 0 0 30 2 0 32
not provided 0 1 9 9 5 24
Primary ciliary dyskinesia 29 5 5 6 1 0 16
CCNO-related disorder 0 0 3 3 0 6
not specified 0 0 0 0 2 2

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 14 3 57 70 8 152
Ambry Genetics 0 0 30 2 0 32
GeneDx 0 1 5 6 4 16
Breakthrough Genomics, Breakthrough Genomics 0 0 2 4 4 10
PreventionGenetics, part of Exact Sciences 0 0 3 3 1 7
OMIM 3 0 0 0 0 3
Baylor Genetics 0 1 2 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 1 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 1 0 2
CeGaT Center for Human Genetics Tuebingen 0 0 1 1 0 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 1 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 1 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 1
Revvity Omics, Revvity 0 0 1 0 0 1
Fulgent Genetics, Fulgent Genetics 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 1
3billion 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1

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