ClinVar Miner

Variants studied for Stickler syndrome

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
4 2 0 0 0 6

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic total
COL2A1 2 1 3
COL11A1 1 0 1
COL9A2 0 1 1
LOXL3 1 0 1

Submitter and significance breakdown #

Total submitters: 5
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Submitter pathogenic likely pathogenic total
Center for Medical Genetics Ghent,University of Ghent 2 0 2
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 1 1
Molecular Genetics Laboratory,Institute for Ophthalmic Research 1 0 1
Integrated Genetics/Laboratory Corporation of America 1 0 1
Institute for Ophthalmic Research,University Tuebingen 0 1 1

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