ClinVar Miner

Submissions for variant NM_130839.5(UBE3A):c.119G>T (p.Gly40Val)

dbSNP: rs864309506
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000202457 SCV000257504 pathogenic Angelman syndrome 2006-12-07 no assertion criteria provided clinical testing

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