ClinVar Miner

Submissions for variant NM_002637.4(PHKA1):c.1794-7T>A

gnomAD frequency: 0.00004  dbSNP: rs376754554
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001310734 SCV001500646 likely benign not provided 2020-07-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003106189 SCV003783407 likely benign Glycogen storage disease IXd 2022-08-15 criteria provided, single submitter clinical testing

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