ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.858+24G>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pediatrics, Division of Medical Genetics,Faculty of Medicine Ramathibodi Hospital, Mahidol University RCV000791247 SCV000925970 benign Glycogen storage disease, type II 2019-07-10 no assertion criteria provided clinical testing This variant is considered benign based on prediction by multiple in silico algorithms (SIFT, Polyphen-2, PredictSNP2, CADD, DANN, FATHMM, and FunSeq2).

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