ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.896T>C (p.Leu299Pro) (rs121907940)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000156941 SCV000784363 pathogenic Glycogen storage disease, type II 2018-03-05 criteria provided, single submitter clinical testing
Medical Genetic Department,Shiraz University Of Medical Science RCV000156941 SCV000206662 pathogenic Glycogen storage disease, type II no assertion criteria provided clinical testing

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