ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.4353G>T (p.Trp1451Cys) (rs775685508)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000415279 SCV000328819 likely pathogenic Glycogen storage disease type III 2014-08-19 no assertion criteria provided clinical testing Our laboratory has reported dual molecular diagnoses in AGL (NM_000028.2, c.4353G>T) and PCCA (NM_000282.3, c.425G>A) in this individual who has reported features of delayed motor milestones, delayed speech, hypotonia, short stature, failure to thrive, hepatomegaly, and elevated liver enzymes.
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV000415279 SCV001190751 pathogenic Glycogen storage disease type III 2020-02-05 no assertion criteria provided clinical testing

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