ClinVar Miner

Submissions for variant NM_000238.4(KCNH2):c.300G>T (p.Arg100=)

dbSNP: rs761176105
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001841953 SCV000908157 benign Cardiac arrhythmia 2018-10-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000960763 SCV001107777 benign Long QT syndrome 2023-12-22 criteria provided, single submitter clinical testing
GeneDx RCV001701441 SCV001942788 likely benign not provided 2020-01-02 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000960763 SCV004844075 benign Long QT syndrome 2023-12-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001701441 SCV005092785 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing KCNH2: BP4, BP7, BS1
Clinical Genetics, Academic Medical Center RCV001701441 SCV001926206 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001701441 SCV001955135 likely benign not provided no assertion criteria provided clinical testing

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