ClinVar Miner

Submissions for variant NM_000292.3(PHKA2):c.1715-14C>T

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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 RCV002653328 SCV002978152 benign Glycogen storage disease IXa1 2024-06-25 criteria provided, single submitter clinical testing

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