ClinVar Miner

Variants studied for CEDNIK syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
5 10 84 13 35 141

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SNAP29 5 9 84 13 33 138
PI4KA, SNAP29 0 0 0 0 2 2
GGT2, SNAP29 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 82 10 35 127
Fulgent Genetics, Fulgent Genetics 2 5 0 3 0 10
OMIM 5 0 0 0 0 5
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 2 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 2
Genome-Nilou Lab 0 0 0 0 2 2
Baylor Genetics 0 0 1 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 1 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 0 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 1
Molecular Genetic Laboratory, Kuwait Medical Genetic Center 0 0 1 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 1 0 0 0 1
New York Genome Center 0 1 0 0 0 1
Next Generation Genetic Polyclinic 1 0 0 0 0 1
Revvity Omics, Revvity 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 1

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