ClinVar Miner

Submissions for variant NM_014270.5(SLC7A9):c.151T>C (p.Ser51Pro)

dbSNP: rs1599688589
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital RCV000991120 SCV001142197 pathogenic Cystine urolithiasis no assertion criteria provided research
Chinese Inherited Urolithiasis Consortium, The Affiliated Yantai Yuhuangding Hospital of Qingdao University RCV004761854 SCV005368572 likely pathogenic Cystinuria 2024-08-26 no assertion criteria provided clinical testing Variant_type:missense/MutationTaster:Disease_causing/CADD:Damaging/phyloP:Conserved/phastCons:Conserved/gnomAD_exome_EastAsian:-/ExAC_EastAsian:-/dbSNP:-

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