ClinVar Miner

Submissions for variant NM_130839.5(UBE3A):c.1864A>G (p.Asn622Asp)

dbSNP: rs2077275624
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine RCV001264747 SCV001442981 likely pathogenic Angelman syndrome 2020-04-03 no assertion criteria provided clinical testing

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