ClinVar Miner

Submissions for variant NM_000890.5(KCNJ5):c.704G>A (p.Arg235Gln)

gnomAD frequency: 0.00001  dbSNP: rs1475852457
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001767083 SCV001990099 uncertain significance not provided 2019-05-23 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005396992 SCV006052768 uncertain significance Long QT syndrome 13; Familial hyperaldosteronism type III 2021-07-30 criteria provided, single submitter research

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