ClinVar Miner

Submissions for variant NM_130839.5(UBE3A):c.671T>C (p.Leu224Ser) (rs587782922)

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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 RCV000194329 SCV000249361 uncertain significance not specified 2015-02-02 criteria provided, single submitter clinical testing
Baylor Genetics RCV000144350 SCV000188527 uncertain significance Angelman syndrome 2014-02-14 no assertion criteria provided clinical testing possible diagnosis of Angelman syndrome

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