ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.684-4G>A

dbSNP: rs750965939
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001842543 SCV001339461 likely benign Cardiac arrhythmia 2019-03-08 criteria provided, single submitter clinical testing
Invitae RCV001450159 SCV001653759 likely benign Long QT syndrome 2022-08-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV003169176 SCV003855706 uncertain significance Cardiovascular phenotype 2023-01-09 criteria provided, single submitter clinical testing The c.684-4G>A intronic variant results from a G to A substitution 4 nucleotides upstream from coding exon 5 in the KCNQ1 gene. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will result in the creation or strengthening of a novel splice acceptor site. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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