ClinVar Miner

Submissions for variant NM_000289.6(PFKM):c.1005A>G (p.Val335=)

gnomAD frequency: 0.00001  dbSNP: rs1454843075
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000686340 SCV000813856 likely benign Glycogen storage disease, type VII 2023-11-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV000686340 SCV002091075 uncertain significance Glycogen storage disease, type VII 2021-09-21 no assertion criteria provided clinical testing

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