ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1035A>C (p.Pro345=)

dbSNP: rs942325926
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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 RCV000559130 SCV000626493 likely benign Glycogen storage disease, type II 2022-11-01 criteria provided, single submitter clinical testing

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