ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.3764A>G (p.Asn1255Ser) (rs138134718)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000556035 SCV000626739 likely benign Glycogen storage disease type III 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV001591194 SCV001814288 uncertain significance not provided 2020-12-22 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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