ClinVar Miner

Submissions for variant NM_020041.3(SLC2A9):c.1202C>T (p.Thr401Met)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Chinese Inherited Urolithiasis Consortium, The Affiliated Yantai Yuhuangding Hospital of Qingdao University RCV004759736 SCV005368638 likely pathogenic Hypouricemia, renal, 2 2024-08-26 no assertion criteria provided clinical testing Variant_type:missense/MutationTaster:Polymorphism/CADD:Tolerable/phyloP:Conserved/phastCons:Nonconserved/gnomAD_exome_EastAsian:0/ExAC_EastAsian:0/dbSNP:rs376668342

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