ClinVar Miner

Submissions for variant NM_000238.4(KCNH2):c.441C>T (p.His147=)

gnomAD frequency: 0.00021  dbSNP: rs143479939
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000631832 SCV000752929 likely benign Long QT syndrome 2024-01-06 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001841828 SCV001352414 benign Cardiac arrhythmia 2019-12-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002331114 SCV002628117 likely benign Cardiovascular phenotype 2018-05-31 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
All of Us Research Program, National Institutes of Health RCV000631832 SCV004844063 benign Long QT syndrome 2023-12-18 criteria provided, single submitter clinical testing

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