ClinVar Miner

Submissions for variant NM_000891.3(KCNJ2):c.884T>C (p.Val295Ala)

dbSNP: rs201162707
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000171667 SCV000050696 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Fulgent Genetics, Fulgent Genetics RCV002485096 SCV002785446 uncertain significance Andersen Tawil syndrome; Short QT syndrome type 3; Atrial fibrillation, familial, 9 2022-04-07 criteria provided, single submitter clinical testing
GeneDx RCV000171667 SCV003803504 uncertain significance not provided 2022-08-11 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: Verma2015[Computational])

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