ClinVar Miner

Submissions for variant NM_005751.4(AKAP9):c.10426A>C (p.Arg3476=) (rs1063243)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000123589 SCV000166928 benign not specified 2011-07-10 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.
PreventionGenetics,PreventionGenetics RCV000123589 SCV000311251 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000248916 SCV000317665 benign Cardiovascular phenotype 2015-06-18 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
Illumina Clinical Services Laboratory,Illumina RCV000353938 SCV000470338 likely benign Romano-Ward syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000399658 SCV001000271 benign Long QT syndrome 2019-12-31 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000123589 SCV001361185 benign not specified 2019-08-09 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000610682 SCV000734584 benign Long QT syndrome 11 no assertion criteria provided clinical testing

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