ClinVar Miner

Variants studied for Filippi syndrome

Included ClinVar conditions (1):
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
11 4 8 0 2 24

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
CKAP2L 10 4 7 1 21
CKAP2L, NT5DC4 1 0 1 1 3

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance benign total
OMIM 6 0 0 0 6
Revvity Omics, Revvity 0 1 3 0 4
Baylor Genetics 0 0 3 0 3
Sanford Medical Genetics Laboratory, Sanford Health 1 0 1 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 2
Genome-Nilou Lab 0 0 0 2 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 1 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 1
3billion 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 1

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