ClinVar Miner

Submissions for variant NM_000292.3(PHKA2):c.1989T>C (p.Tyr663=)

gnomAD frequency: 0.00005  dbSNP: rs770108234
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001478680 SCV001682955 likely benign Glycogen storage disease IXa1 2018-06-25 criteria provided, single submitter clinical testing

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