ClinVar Miner

Submissions for variant NM_130839.5(UBE3A):c.130G>A (p.Glu44Lys)

dbSNP: rs1555403204
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623357 SCV000742423 uncertain significance Inborn genetic diseases 2017-05-09 criteria provided, single submitter clinical testing
GeneDx RCV002469221 SCV002765452 uncertain significance not provided 2022-06-16 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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