ClinVar Miner

Submissions for variant NM_000289.6(PFKM):c.1063-5C>T

gnomAD frequency: 0.00011  dbSNP: rs758178966
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000917293 SCV001062566 likely benign Glycogen storage disease, type VII 2024-01-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV000917293 SCV001463667 uncertain significance Glycogen storage disease, type VII 2020-01-17 no assertion criteria provided clinical testing

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