ClinVar Miner

Submissions for variant NC_000011.9:g.(?_2604665)_(2610084_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001388214 SCV001589093 pathogenic Long QT syndrome 2020-03-03 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exons 7-10 of the KCNQ1 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This variant was reported in a family with Jervell and Lange-Nielsen Syndrome (PMID: 25187895) and in an individual with Long QT syndrome (PMID: 22382802). Loss-of-function variants in KCNQ1 are known to be pathogenic (PMID: 9323054, 19862833). For these reasons, this variant has been classified as Pathogenic.

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