ClinVar Miner

Variants studied for Senior-Loken syndrome 6

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
6 0 107 12 24 146

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic uncertain significance likely benign benign total
CEP290 5 101 12 24 139
CEP290, RLIG1 0 5 0 0 5
CEP290, LOC129390514 1 1 0 0 2

Submitter and significance breakdown #

Total submitters: 6
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Submitter pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 100 12 18 130
Genome-Nilou Lab 0 10 0 6 16
Baylor Genetics 2 1 0 0 3
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 2 0 0 0 2
OMIM 1 0 0 0 1
MVZ Medizinische Genetik Mainz 1 0 0 0 1

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