ClinVar Miner

Submissions for variant NM_130839.5(UBE3A):c.618A>T (p.Ala206=) (rs143484751)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126214 SCV000169709 likely benign not specified 2017-10-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000144336 SCV000630043 benign Angelman syndrome 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000858785 SCV001149366 likely benign not provided 2018-12-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV000144336 SCV000188513 uncertain significance Angelman syndrome 2014-02-14 no assertion criteria provided clinical testing possible diagnosis of Angelman syndrome

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