ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.1319C>T (p.Ser440Phe) (rs149771710)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000247999 SCV000305377 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001705337 SCV000528000 likely benign not provided 2021-01-20 criteria provided, single submitter clinical testing
Invitae RCV000528800 SCV000626671 benign Glycogen storage disease type III 2020-12-04 criteria provided, single submitter clinical testing

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