ClinVar Miner

Submissions for variant NM_004982.4(KCNJ8):c.471G>A (p.Thr157=) (rs143319002)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000601363 SCV000722752 likely benign not specified 2017-09-08 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.
Ambry Genetics RCV000619265 SCV000737934 likely benign Cardiovascular phenotype 2017-03-07 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000862875 SCV001003439 benign Brugada syndrome 2019-12-31 criteria provided, single submitter clinical testing

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