ClinVar Miner

Submissions for variant NM_153766.3(KCNJ1):c.770G>T (p.Ser257Ile)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004759732 SCV005415733 likely pathogenic Bartter disease type 2 criteria provided, single submitter clinical testing PM2_Supporting+PP3_Strong+PP1
Chinese Inherited Urolithiasis Consortium, The Affiliated Yantai Yuhuangding Hospital of Qingdao University RCV004759732 SCV005368633 likely pathogenic Bartter disease type 2 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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