ClinVar Miner

Submissions for variant NM_000294.3(PHKG2):c.635AGG[1] (p.Glu213del)

dbSNP: rs2151310152
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002052257 SCV002318860 uncertain significance Glycogen storage disease IXc 2022-03-22 criteria provided, single submitter clinical testing Inframe deletion located in a nonrepeat region: predicted to change the length of the protein and disrupt normal protein function.It is not observed in the gnomAD v2.1.1 dataset. Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.

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