ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.772T>C (p.Ser258Pro) (rs886039873)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Genetics,Sultan Qaboos University Hospital, Oman RCV000256372 SCV000891607 uncertain significance Glycogen storage disease type III 2017-12-30 criteria provided, single submitter curation
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare RCV000256372 SCV000323144 likely pathogenic Glycogen storage disease type III no assertion criteria provided clinical testing

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