ClinVar Miner

Variants studied for Ehlers-Danlos syndrome, type 7A

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
0 0 195 158 17 369

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination uncertain significance likely benign benign total
COL5A2 48 59 0 107
COL5A1 44 42 7 93
COL1A1 70 20 0 89
COL5A1, LOC101448202 33 37 10 80

Submitter and significance breakdown #

Total submitters: 1
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Submitter uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 195 158 17 369

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