ClinVar Miner

Variants studied for Senior-Loken syndrome 6

Included ClinVar conditions (7):
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 not provided total
56 35 245 66 24 1 419

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 not provided total
CEP290 53 29 238 65 24 1 402
CEP290, RLIG1 2 6 6 0 0 0 14
CEP290, LOC129390514 1 0 1 1 0 0 3

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 50 31 146 54 0 0 281
Illumina Laboratory Services, Illumina 0 0 100 12 18 0 130
New York Genome Center 1 1 19 0 0 0 21
Genome-Nilou Lab 0 0 10 0 6 0 16
Baylor Genetics 2 0 1 0 0 0 3
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 3 0 0 0 0 0 3
Suma Genomics 2 0 1 0 0 0 3
OMIM 1 0 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 1 0 0 0 0 0 1

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