ClinVar Miner

Submissions for variant NM_000238.4(KCNH2):c.1342G>T (p.Ala448Ser)

dbSNP: rs767723985
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV000522527 SCV000616610 uncertain significance Long QT syndrome 2 2017-05-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000528889 SCV000627422 likely benign Long QT syndrome 2023-03-26 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001841407 SCV001358221 likely benign Cardiac arrhythmia 2020-01-27 criteria provided, single submitter clinical testing
GeneDx RCV002225643 SCV002504517 likely benign not provided 2019-05-21 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.

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