ClinVar Miner

Submissions for variant NM_000238.4(KCNH2):c.3153-18C>T

gnomAD frequency: 0.00054  dbSNP: rs201337201
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811955 SCV002048921 benign not provided 2021-07-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002074166 SCV002402866 benign Long QT syndrome 2023-12-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489852 SCV002801968 likely benign Short QT syndrome type 1; Long QT syndrome 2 2021-08-23 criteria provided, single submitter clinical testing

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