ClinVar Miner

Submissions for variant NM_000238.4(KCNH2):c.3357G>A (p.Glu1119=)

dbSNP: rs1389024546
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000998941 SCV001155301 uncertain significance not provided 2019-01-01 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001842581 SCV001351934 likely benign Cardiac arrhythmia 2019-12-20 criteria provided, single submitter clinical testing
Invitae RCV002068740 SCV002472097 likely benign Long QT syndrome 2022-03-19 criteria provided, single submitter clinical testing

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