ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.4539C>T (p.Phe1513=) (rs752519483)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000426730 SCV000534068 likely benign not specified 2016-12-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000929744 SCV001075380 likely benign not provided 2018-10-12 criteria provided, single submitter clinical testing
Invitae RCV001428791 SCV001631499 likely benign Glycogen storage disease type III 2020-12-05 criteria provided, single submitter clinical testing

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