ClinVar Miner

Variants in gene CKAP2L

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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
12 9 97 41 27 175

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 3 3 32 33 26 92
Inborn genetic diseases 0 0 64 5 0 69
Filippi syndrome 11 4 8 1 1 24
CKAP2L-related disorder 0 1 1 8 2 12
not specified 0 0 2 0 0 2
Hypogonadism; Intellectual disability 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Ambry Genetics 0 0 64 5 0 69
Labcorp Genetics (formerly Invitae), Labcorp 1 0 25 25 13 64
GeneDx 3 1 5 0 18 27
Breakthrough Genomics, Breakthrough Genomics 0 0 0 4 11 15
CeGaT Center for Human Genetics Tuebingen 0 0 0 13 0 13
PreventionGenetics, part of Exact Sciences 0 1 1 8 2 12
OMIM 6 0 0 0 0 6
Revvity Omics, Revvity 0 1 3 0 0 4
Baylor Genetics 0 0 3 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 1 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 2
Fulgent Genetics, Fulgent Genetics 0 1 1 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 0 2 0 0 0 2
3billion 1 0 0 1 0 2
Sanford Medical Genetics Laboratory, Sanford Health 1 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 1 0 0 1
Eurofins Ntd Llc (ga) 0 0 1 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1

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