ClinVar Miner

Submissions for variant NM_000890.5(KCNJ5):c.938-11C>T

gnomAD frequency: 0.00376  dbSNP: rs72542772
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000428656 SCV000517094 benign not specified 2016-08-12 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 RCV002061660 SCV002354780 benign Long QT syndrome 2024-01-26 criteria provided, single submitter clinical testing

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