ClinVar Miner

Submissions for variant NM_000890.5(KCNJ5):c.351C>T (p.Asp117=)

gnomAD frequency: 0.00003  dbSNP: rs765873474
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001414358 SCV001616492 likely benign Long QT syndrome 2022-10-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002456663 SCV002613242 likely benign Cardiovascular phenotype 2018-07-05 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 RCV002493976 SCV002799152 likely benign Long QT syndrome 13; Familial hyperaldosteronism type III 2021-09-21 criteria provided, single submitter clinical testing

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