ClinVar Miner

Submissions for variant NM_002626.6(PFKL):c.710A>T (p.Asp237Val)

gnomAD frequency: 0.08391  dbSNP: rs1057037
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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 RCV000506935 SCV000604621 benign not specified 2018-11-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004714036 SCV005278310 benign not provided criteria provided, single submitter not provided

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