ClinVar Miner

Submissions for variant NM_130839.5(UBE3A):c.1965A>G (p.Leu655=)

gnomAD frequency: 0.00001  dbSNP: rs371296838
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000501444 SCV000597811 likely benign not specified 2017-04-03 criteria provided, single submitter clinical testing
Eurofins NTD LLC (GA) RCV000729891 SCV000857587 uncertain significance not provided 2017-10-25 criteria provided, single submitter clinical testing
GeneDx RCV000729891 SCV001900864 likely benign not provided 2021-03-04 criteria provided, single submitter clinical testing
Invitae RCV002056886 SCV002372143 likely benign Angelman syndrome 2021-04-28 criteria provided, single submitter clinical testing

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