ClinVar Miner

Submissions for variant NM_130839.5(UBE3A):c.732C>T (p.Leu244=)

dbSNP: rs1060504406
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001499203 SCV001703961 likely benign Angelman syndrome 2022-11-03 criteria provided, single submitter clinical testing

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