ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.1514+34253G>A

gnomAD frequency: 0.00357  dbSNP: rs191910825
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV002275487 SCV002563060 benign not provided 2024-04-01 criteria provided, single submitter clinical testing KCNQ1OT1: BS1, BS2
PreventionGenetics, part of Exact Sciences RCV004534032 SCV004724115 likely benign KCNQ1-related disorder 2022-02-22 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).

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