ClinVar Miner

Submissions for variant NM_000289.6(PFKM):c.1467C>T (p.Asn489=)

gnomAD frequency: 0.00002  dbSNP: rs753681797
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 RCV001427067 SCV001629740 likely benign Glycogen storage disease, type VII 2023-12-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001427067 SCV002091084 benign Glycogen storage disease, type VII 2020-02-21 no assertion criteria provided clinical testing

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