ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.386+16231G>A

gnomAD frequency: 0.00001  dbSNP: rs1490391959
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001328808 SCV001520016 likely pathogenic Long QT syndrome 1 2019-11-07 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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