ClinVar Miner

Submissions for variant NM_000238.4(KCNH2):c.2693-5C>T

gnomAD frequency: 0.00001  dbSNP: rs1060503992
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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 RCV000461379 SCV000555888 likely benign Long QT syndrome 2022-11-09 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001841369 SCV001346218 likely benign Cardiac arrhythmia 2019-08-26 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000461379 SCV004815754 likely benign Long QT syndrome 2023-11-30 criteria provided, single submitter clinical testing

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