ClinVar Miner

Submissions for variant NM_002637.4(PHKA1):c.521C>G (p.Ala174Gly)

dbSNP: rs2053946293
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics RCV001256192 SCV001432999 uncertain significance Glycogen storage disease IXd 2020-02-11 criteria provided, single submitter clinical testing

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