ClinVar Miner

Submissions for variant NM_000289.6(PFKM):c.638+20C>T

gnomAD frequency: 0.00001  dbSNP: rs901548166
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002145854 SCV002458052 likely benign Glycogen storage disease, type VII 2022-03-15 criteria provided, single submitter clinical testing

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