ClinVar Miner

Submissions for variant NM_002234.4(KCNA5):c.1790G>A (p.Arg597Gln) (rs201342234)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000646128 SCV000767885 likely benign Atrial fibrillation, familial, 7 2020-12-03 criteria provided, single submitter clinical testing
GeneDx RCV001584489 SCV001820749 uncertain significance not provided 2020-01-23 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported as a variant of uncertain significance by another clinical laboratory in ClinVar (ClinVar Variant ID# 537308; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function

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