ClinVar Miner

Variants studied for Ellis-van Creveld syndrome; Curry-Hall 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
77 29 47 165 97 413

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
EVC2 48 12 23 82 63 227
EVC 28 17 24 82 33 183
EVC, EVC2 1 0 0 1 1 3

Submitter and significance breakdown #

Total submitters: 3
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 77 28 44 165 97 411
Fulgent Genetics,Fulgent Genetics 2 1 3 0 0 6
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 1

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