ClinVar Miner

Submissions for variant NM_000294.3(PHKG2):c.927+13G>A

dbSNP: rs371298131
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001334370 SCV001527195 uncertain significance Glycogen storage disease IXc 2018-10-11 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV001334370 SCV004687656 likely benign Glycogen storage disease IXc 2024-01-24 criteria provided, single submitter clinical testing

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