ClinVar Miner

Submissions for variant NM_000292.3(PHKA2):c.2788C>T (p.Arg930Trp)

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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 RCV005176472 SCV005813217 likely benign Glycogen storage disease IXa1 2024-10-25 criteria provided, single submitter clinical testing

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