ClinVar Miner

Submissions for variant NM_001354735.1(PFKM):c.226C>A (p.Gln76Lys)

gnomAD frequency: 0.86945  dbSNP: rs4760682
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001788885 SCV002029599 benign Glycogen storage disease, type VII 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004707716 SCV005232939 benign not provided criteria provided, single submitter not provided

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