ClinVar Miner

Submissions for variant NM_130839.5(UBE3A):c.1032_1038del (p.Thr345fs)

dbSNP: rs587781192
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623803 SCV000741809 pathogenic Inborn genetic diseases 2016-09-16 criteria provided, single submitter clinical testing
Baylor Genetics RCV000144266 SCV000172017 pathogenic Angelman syndrome 2014-02-14 no assertion criteria provided clinical testing

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