ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1193T>C (p.Leu398Pro)

dbSNP: rs1598577666
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Molecular Genetics Department, National Research Center RCV000855786 SCV000998899 pathogenic Glycogen storage disease, type II 2019-01-12 criteria provided, single submitter clinical testing
AiLife Diagnostics, AiLife Diagnostics RCV002223962 SCV002502902 likely pathogenic not provided 2022-03-03 criteria provided, single submitter clinical testing

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