ClinVar Miner

Submissions for variant NM_004982.4(KCNJ8):c.1001T>C (p.Val334Ala) (rs34811413)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126429 SCV000169936 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 RCV000474235 SCV000560982 benign Brugada syndrome 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619924 SCV000735504 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
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000625194 SCV000744081 benign SUDDEN INFANT DEATH SYNDROME 2016-08-24 criteria provided, single submitter clinical testing

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