ClinVar Miner

Submissions for variant NM_000238.4(KCNH2):c.2692+7C>T

gnomAD frequency: 0.00013  dbSNP: rs372023163
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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 RCV000698339 SCV000826999 likely benign Long QT syndrome 2023-05-15 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000712075 SCV000842490 uncertain significance not provided 2018-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002477591 SCV002778059 uncertain significance Short QT syndrome type 1; Long QT syndrome 2 2021-12-29 criteria provided, single submitter clinical testing

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