ClinVar Miner

Submissions for variant NM_000289.6(PFKM):c.2265C>T (p.Tyr755=)

gnomAD frequency: 0.00003  dbSNP: rs374418157
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
Invitae RCV000902144 SCV001046551 likely benign Glycogen storage disease, type VII 2023-12-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV000902144 SCV002091092 likely benign Glycogen storage disease, type VII 2020-01-19 no assertion criteria provided clinical testing

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