ClinVar Miner

Submissions for variant NM_130838.3(UBE3A):c.1004G>C (p.Ser335Thr) (rs141984760)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000719958 SCV000850832 uncertain significance History of neurodevelopmental disorder 2017-02-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Baylor Miraca Genetics Laboratories, RCV000144337 SCV000188514 uncertain significance Angelman syndrome 2014-02-14 no assertion criteria provided clinical testing possible diagnosis of Angelman syndrome
CeGaT Praxis fuer Humangenetik Tuebingen RCV000488159 SCV000574998 uncertain significance not provided 2016-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000439411 SCV000515220 likely benign not specified 2016-12-20 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 RCV000144337 SCV000630040 likely benign Angelman syndrome 2017-02-24 criteria provided, single submitter clinical testing

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