ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.846C>T (p.Asp282=)

dbSNP: rs1008936778
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002126098 SCV002452962 likely benign Glycogen storage disease, type II 2023-07-26 criteria provided, single submitter clinical testing

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