ClinVar Miner

Variants studied for Craniometaphyseal dysplasia

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 56 67 24 147

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination uncertain significance likely benign benign total
ANKH, OTULIN 42 54 16 112
ANKH 14 8 7 29
ANKH, LOC100130744, OTULIN 0 5 1 6

Submitter and significance breakdown #

Total submitters: 1
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Submitter uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 56 67 24 147

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