ClinVar Miner

Submissions for variant NM_000292.3(PHKA2):c.285+12C>T

gnomAD frequency: 0.00003  dbSNP: rs765795350
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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 RCV002091826 SCV002439460 likely benign Glycogen storage disease IXa1 2020-12-24 criteria provided, single submitter clinical testing

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