ClinVar Miner

Submissions for variant NM_002637.4(PHKA1):c.2391A>G (p.Glu797=)

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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 RCV002967308 SCV003284681 benign Glycogen storage disease IXd 2022-11-10 criteria provided, single submitter clinical testing

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