ClinVar Miner

Variants studied for Epiphyseal dysplasia, multiple, 2; Stickler syndrome, type 5

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 not provided total
0 0 3 0 0 1 4

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination uncertain significance not provided total
COL9A2 3 1 4

Submitter and significance breakdown #

Total submitters: 3
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Submitter uncertain significance not provided total
Fulgent Genetics,Fulgent Genetics 2 0 2
Mayo Clinic Laboratories, Mayo Clinic 1 0 1
GenomeConnect, ClinGen 0 1 1

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