ClinVar Miner

Submissions for variant NM_000891.3(KCNJ2):c.687A>G (p.Ala229=)

gnomAD frequency: 0.00001  dbSNP: rs1276042254
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000609679 SCV000714645 likely benign not specified 2017-08-31 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002529377 SCV003511063 likely benign Andersen Tawil syndrome; Short QT syndrome type 3 2023-10-04 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000609679 SCV005204167 likely benign not specified 2024-06-20 criteria provided, single submitter clinical testing

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