ClinVar Miner

Submissions for variant NM_000238.4(KCNH2):c.816C>G (p.Ser272=)

dbSNP: rs1457478171
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001482049 SCV001686409 likely benign Long QT syndrome 2023-10-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002421103 SCV002680431 likely benign Cardiovascular phenotype 2020-01-27 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.

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