ClinVar Miner

Submissions for variant NM_000890.5(KCNJ5):c.192C>T (p.His64=)

gnomAD frequency: 0.00182  dbSNP: rs140848236
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001705577 SCV000513349 likely benign not provided 2019-08-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000631821 SCV000752916 benign Long QT syndrome 2024-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002411295 SCV002720717 likely benign Cardiovascular phenotype 2018-12-04 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.
Breakthrough Genomics, Breakthrough Genomics RCV001705577 SCV005211313 likely benign not provided criteria provided, single submitter not provided

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