ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.604+12C>T

gnomAD frequency: 0.00001  dbSNP: rs370821907
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155133 SCV000204819 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing c.604+12C>T in Intron 03 of KCNQ1: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus se quence and has been identified in 1/7020 European American chromosomes from a br oad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.e du/EVS).
Invitae RCV002056072 SCV002375749 likely benign Long QT syndrome 2023-12-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498748 SCV002812408 likely benign Atrial fibrillation, familial, 3; Beckwith-Wiedemann syndrome; Long QT syndrome 1; Jervell and Lange-Nielsen syndrome 1; Short QT syndrome type 2 2021-10-01 criteria provided, single submitter clinical testing

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