ClinVar Miner

Submissions for variant NM_014270.5(SLC7A9):c.131T>C (p.Ile44Thr)

dbSNP: rs121908485
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000006144 SCV000026326 pathogenic Cystinuria 2002-11-01 no assertion criteria provided literature only
Chinese Inherited Urolithiasis Consortium, The Affiliated Yantai Yuhuangding Hospital of Qingdao University RCV000006144 SCV005368551 pathogenic Cystinuria 2024-08-26 no assertion criteria provided clinical testing Variant_type:missense/MutationTaster:Disease_causing_automatic/CADD:Damaging/phyloP:Conserved/phastCons:Conserved/gnomAD_exome_EastAsian:-/ExAC_EastAsian:-/dbSNP:rs121908485

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