ClinVar Miner

Submissions for variant NM_000238.4(KCNH2):c.1945+18C>T

gnomAD frequency: 0.00004  dbSNP: rs778276270
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001992806 SCV002219300 likely benign Long QT syndrome 2023-10-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507667 SCV002814354 uncertain significance Short QT syndrome type 1; Long QT syndrome 2 2021-07-19 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003331244 SCV004039444 likely benign not specified 2023-08-26 criteria provided, single submitter clinical testing

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