ClinVar Miner

Variants studied for Seckel syndrome 4

Coded as:
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
10 2 74 9 24 119

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CENPJ 8 1 39 3 10 61
CENPJ, RNF17 2 1 29 2 8 42
CPAP 0 0 3 4 6 13
CPAP, RNF17 0 0 3 0 0 3

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 73 9 22 104
Genetic Services Laboratory, University of Chicago 7 2 0 0 0 9
Genome-Nilou Lab 0 0 0 0 4 4
Baylor Genetics 1 0 1 0 0 2
OMIM 1 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 1 0 0 0 0 1

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