ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.4259+5G>A (rs780504025)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000991301 SCV001142703 likely pathogenic Glycogen storage disease type III 2019-07-09 criteria provided, single submitter clinical testing
GeneDx RCV001558704 SCV001780708 likely pathogenic not provided 2019-11-08 criteria provided, single submitter clinical testing Intronic +5 splice site variant in a gene for which loss-of-function is a known mechanism of disease, and both in silico predictors and evolutionary conservation support a deleterious effect; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 10925384)
OMIM RCV000001164 SCV000021314 pathogenic Glycogen storage disease IIIb 2000-07-31 no assertion criteria provided literature only

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