ClinVar Miner

Submissions for variant NM_000292.3(PHKA2):c.2806+12G>A

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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 RCV003527320 SCV004368861 likely benign Glycogen storage disease IXa1 2023-09-14 criteria provided, single submitter clinical testing

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