ClinVar Miner

Submissions for variant NM_000292.3(PHKA2):c.1653C>T (p.Cys551=)

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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 RCV005185959 SCV005825743 likely benign Glycogen storage disease IXa1 2025-01-06 criteria provided, single submitter clinical testing

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