ClinVar Miner

Variants from Collagen Diagnostic Laboratory,University of Washington

Location: United States — Primary collection method: clinical testing
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
414 0 0 0 0 414

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic total
COL3A1 410 410
COL3A1, MIR3606 1 1
CREB3L1 1 1
LOC110121439, SERPINH1 1 1
SERPINH1 1 1

Condition and significance breakdown #

Total conditions: 3
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Condition pathogenic total
Ehlers-Danlos syndrome, type 4 411 411
Osteogenesis imperfecta type 10 2 2
Osteogenesis imperfecta 1 1

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