ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.1394-27C>T

gnomAD frequency: 0.00360  dbSNP: rs28730757
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001587807 SCV001817098 likely benign not provided 2018-07-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004536221 SCV004718265 likely benign KCNQ1-related disorder 2019-03-15 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
CeGaT Center for Human Genetics Tuebingen RCV001587807 SCV004811078 benign not provided 2024-03-01 criteria provided, single submitter clinical testing KCNQ1OT1: BS1, BS2

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