ClinVar Miner

Submissions for variant NM_130839.5(UBE3A):c.1402del (p.Thr468fs)

dbSNP: rs2080191422
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001334474 SCV001527327 pathogenic Angelman syndrome 2018-06-18 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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