ClinVar Miner

Submissions for variant NM_003041.4(SLC5A2):c.503A>G (p.Gln168Arg)

gnomAD frequency: 0.00001  dbSNP: rs1294044448
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003441604 SCV004169010 likely pathogenic not provided 2023-10-31 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV005021969 SCV005645802 uncertain significance Familial renal glucosuria 2024-05-15 criteria provided, single submitter clinical testing

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