ClinVar Miner

Submissions for variant NM_130839.5(UBE3A):c.1822C>G (p.Gln608Glu)

dbSNP: rs587782918
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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 RCV000144343 SCV000188520 uncertain significance Angelman syndrome 2014-02-14 no assertion criteria provided clinical testing possible diagnosis of Angelman syndrome

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