ClinVar Miner

Submissions for variant NM_004982.4(KCNJ8):c.291C>G (p.Ala97=) (rs34524779)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126428 SCV000169935 benign not specified 2014-01-16 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.
Invitae RCV000459771 SCV000560983 benign Brugada syndrome 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619579 SCV000735501 benign Cardiovascular phenotype 2015-07-27 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

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