ClinVar Miner

Submissions for variant NM_130839.5(UBE3A):c.62+20G>A

dbSNP: rs587782906
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000144322 SCV004299932 likely benign Angelman syndrome 2022-11-06 criteria provided, single submitter clinical testing
Baylor Genetics RCV000144322 SCV000188499 uncertain significance Angelman syndrome 2014-02-14 no assertion criteria provided clinical testing possible diagnosis of Angelman syndrome

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