ClinVar Miner

Variants studied for Corneal fragility keratoglobus, blue sclerae AND joint hypermobility

Coded as:
Minimum submission review status: Collection method:
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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 0 218 56 30 307

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic uncertain significance likely benign benign total
ZNF469 4 187 53 27 270
PRDM5 0 31 3 3 37

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 206 54 29 289
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 2 18 20
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 18 18
Fulgent Genetics 0 11 0 0 11
OMIM 4 0 0 0 4
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 1 2
Institute of Human Genetics,Cologne University 0 1 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 0 0 1

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