ClinVar Miner

Variants in gene combination EVC, EVC2

See also:
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 2 4 4 5

Condition and significance breakdown #

Total conditions: 5
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Condition uncertain significance likely benign benign total
Curry-Hall syndrome 0 3 2 5
Ellis-van Creveld Syndrome 1 4 2 5
not specified 0 1 3 4
Chondroectodermal dysplasia; Curry-Hall syndrome 0 1 1 2
not provided 1 0 1 2

Submitter and significance breakdown #

Total submitters: 6
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Submitter uncertain significance likely benign benign total
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 1 3 5
Illumina Clinical Services Laboratory,Illumina 1 4 2 5
GeneDx 0 1 3 4
PreventionGenetics 0 1 2 3
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 0 1 2
Invitae 0 1 1 2

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