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: 4
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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 2025-01-12 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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005237994 SCV005883186 benign not specified 2024-12-27 criteria provided, single submitter clinical testing

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