ClinVar Miner

Submissions for variant NM_000890.5(KCNJ5):c.312C>T (p.Phe104=)

gnomAD frequency: 0.00009  dbSNP: rs201217363
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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 RCV000868567 SCV001009910 benign Long QT syndrome 2024-01-21 criteria provided, single submitter clinical testing
GeneDx RCV001655623 SCV001870183 likely benign not provided 2021-02-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002319997 SCV002607609 likely benign Cardiovascular phenotype 2020-09-01 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 RCV002495284 SCV002801048 likely benign Long QT syndrome 13; Familial hyperaldosteronism type III 2022-01-04 criteria provided, single submitter clinical testing

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