ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.632T>G (p.Leu211Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Biochemistry Laboratory, Health Services Laboratory RCV003468706 SCV004217814 likely pathogenic Primary hyperoxaluria, type I 2023-10-27 criteria provided, single submitter curation ACMG:PM1 PM2 PP3 PP4
Chinese Inherited Urolithiasis Consortium, The Affiliated Yantai Yuhuangding Hospital of Qingdao University RCV003468706 SCV005368583 likely pathogenic Primary hyperoxaluria, type I 2024-08-26 no assertion criteria provided clinical testing Variant_type:missense/MutationTaster:Disease_causing/CADD:Damaging/phyloP:Conserved/phastCons:Nonconserved/gnomAD_exome_EastAsian:-/ExAC_EastAsian:-/dbSNP:-

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