ClinVar Miner

Submissions for variant NM_000289.6(PFKM):c.1770C>T (p.Ala590=)

gnomAD frequency: 0.00004  dbSNP: rs751097669
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001277405 SCV001607563 likely benign Glycogen storage disease, type VII 2022-10-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277405 SCV001464354 uncertain significance Glycogen storage disease, type VII 2020-08-14 no assertion criteria provided clinical testing

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