ClinVar Miner

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

dbSNP: rs371033104
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001286776 SCV001473393 uncertain significance Glycogen storage disease, type VII 2019-09-18 criteria provided, single submitter clinical testing
Invitae RCV001286776 SCV003453063 likely benign Glycogen storage disease, type VII 2024-01-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001286776 SCV002091076 uncertain significance Glycogen storage disease, type VII 2020-02-26 no assertion criteria provided clinical testing

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