ClinVar Miner

Submissions for variant NM_000292.3(PHKA2):c.1308T>G (p.Pro436=)

gnomAD frequency: 0.00012  dbSNP: rs148492015
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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 RCV002088733 SCV002381989 likely benign Glycogen storage disease IXa1 2021-11-06 criteria provided, single submitter clinical testing

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