ClinVar Miner

Submissions for variant NM_000890.5(KCNJ5):c.738G>A (p.Glu246=)

gnomAD frequency: 0.00008  dbSNP: rs372736753
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001707843 SCV000732531 likely benign not provided 2019-02-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000866293 SCV001007370 benign Long QT syndrome 2024-01-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002385954 SCV002673579 likely benign Cardiovascular phenotype 2020-10-16 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.
Fulgent Genetics, Fulgent Genetics RCV002491305 SCV002802207 likely benign Long QT syndrome 13; Familial hyperaldosteronism type III 2021-08-13 criteria provided, single submitter clinical testing

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