ClinVar Miner

Submissions for variant NM_153766.3(KCNJ1):c.240G>A (p.Trp80Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003989966 SCV004806120 likely pathogenic Bartter disease type 2 2024-03-25 criteria provided, single submitter clinical testing

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