ClinVar Miner

Submissions for variant NM_002637.4(PHKA1):c.2607-5C>T

gnomAD frequency: 0.00002  dbSNP: rs375770238
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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 RCV002136291 SCV002470145 likely benign Glycogen storage disease IXd 2022-03-17 criteria provided, single submitter clinical testing

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