ClinVar Miner

Variants in gene UBE3A

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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 not provided total
7 1 5 8 14 1 36

Condition and significance breakdown #

Total conditions: 4
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 0 1 1 5 12 0 19
Angelman syndrome 6 0 3 0 0 1 10
See cases 1 0 1 1 2 0 5
not specified 0 0 0 2 0 0 2

Submitter and significance breakdown #

Total submitters: 7
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 1 0 1 7 10 0 19
Invitae 5 0 3 0 0 0 8
ISCA Site 6 0 0 0 1 2 0 3
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 0 0 2 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 1 1 0 0 0 2
OMIM 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1

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