ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.1128+1G>T

dbSNP: rs397508078
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
AiLife Diagnostics, AiLife Diagnostics RCV002223777 SCV002502732 likely pathogenic not provided 2021-09-01 criteria provided, single submitter clinical testing
GeneDx RCV002223777 SCV002504094 likely pathogenic not provided 2022-03-23 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Canonical splice site variant expected to result in aberrant splicing, although in the absence of functional evidence the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 19716085, 25525159, 15840476)
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000576927 SCV000679024 not provided Long QT syndrome 1 no assertion provided literature only

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