ClinVar Miner

Submissions for variant NM_130839.5(UBE3A):c.458T>G (p.Val153Gly) (rs587782915)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000144335 SCV000195377 uncertain significance Angelman syndrome 2013-02-22 criteria provided, single submitter clinical testing
Baylor Genetics RCV000144335 SCV000188512 uncertain significance Angelman syndrome 2014-02-14 no assertion criteria provided clinical testing possible diagnosis of Angelman syndrome

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