ClinVar Miner

Variants studied for Cornelia de Lange Syndrome

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 74 82 8 164

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination uncertain significance likely benign benign total
NIPBL 27 28 2 57
SMC1A 25 29 1 55
SMC3 15 22 5 42
CPLANE1, NIPBL 7 3 0 10

Submitter and significance breakdown #

Total submitters: 1
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Submitter uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 74 82 8 164

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