ClinVar Miner

Submissions for variant NM_000341.4(SLC3A1):c.283G>A (p.Ala95Thr)

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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 RCV004759747 SCV005368663 likely pathogenic Cystinuria 2024-08-26 no assertion criteria provided clinical testing Variant_type:missense/MutationTaster:Polymorphism/CADD:Tolerable/phyloP:Conserved/phastCons:Nonconserved/gnomAD_exome_EastAsian:0.0023/ExAC_EastAsian:0.0022/dbSNP:rs763040449

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