ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1346C>T (p.Ser449Leu)

dbSNP: rs753483808
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000886768 SCV001030295 likely benign Glycogen storage disease, type II 2024-01-24 criteria provided, single submitter clinical testing
Revvity Omics, Revvity Omics RCV003130083 SCV003810585 uncertain significance not provided 2023-08-16 criteria provided, single submitter clinical testing

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