ClinVar Miner

Submissions for variant NM_000289.6(PFKM):c.1500+29C>T

gnomAD frequency: 0.00183  dbSNP: rs138256599
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001802734 SCV002049846 likely benign Glycogen storage disease, type VII 2020-10-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004704651 SCV005213033 likely benign not provided criteria provided, single submitter not provided

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