ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.2331+12G>T

dbSNP: rs769251110
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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 RCV003821932 SCV004628054 likely benign Glycogen storage disease, type II 2024-02-19 criteria provided, single submitter clinical testing

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