ClinVar Miner

Submissions for variant NM_000238.4(KCNH2):c.2779_2786dup (p.Glu929fs)

dbSNP: rs1584845045
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001009194 SCV001169012 likely pathogenic not provided 2021-06-21 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (Lek et al., 2016); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 27535533)

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