ClinVar Miner

Variants studied for Ellis-van Creveld 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
5 0 106 89 54 252

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic uncertain significance likely benign benign total
EVC 2 45 75 44 166
EVC2 3 60 10 8 81
EVC, EVC2 0 1 4 2 5

Submitter and significance breakdown #

Total submitters: 2
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Submitter pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 106 89 54 247
Dan Cohn Lab,University Of California Los Angeles 5 0 0 0 5

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