ClinVar Miner

Submissions for variant NM_130839.5(UBE3A):c.368_371CTTA[1] (p.Thr123_Tyr124insTer) (rs587780570)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000144543 SCV000195371 pathogenic Angelman syndrome 2013-02-08 criteria provided, single submitter clinical testing
Neurogenetics Laboratory - MEYER,AOU Meyer RCV000144543 SCV000494546 pathogenic Angelman syndrome 2016-11-16 criteria provided, single submitter clinical testing
Baylor Genetics RCV000144543 SCV000165968 pathogenic Angelman syndrome 2014-02-14 no assertion criteria provided clinical testing

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