ClinVar Miner

Submissions for variant NM_000293.3(PHKB):c.2427+964del

dbSNP: rs762091938
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704810 SCV000730298 likely benign not provided 2018-04-26 criteria provided, single submitter clinical testing
Invitae RCV001468816 SCV001672879 likely benign Glycogen storage disease IXb 2024-01-29 criteria provided, single submitter clinical testing

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