ClinVar Miner

Submissions for variant NM_005751.4(AKAP9):c.8375A>G (p.Asn2792Ser) (rs6960867)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000123585 SCV000050795 benign not specified 2013-06-24 criteria provided, single submitter research
GeneDx RCV000123585 SCV000166924 benign not specified 2011-08-08 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.
PreventionGenetics,PreventionGenetics RCV000123585 SCV000311261 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000252649 SCV000317560 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;Seen in trans with a mutation or in homozygous state in individual without severe disease for that gene
Illumina Clinical Services Laboratory,Illumina RCV000261848 SCV000470305 likely benign Romano-Ward syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000386806 SCV001000268 benign Long QT syndrome 2019-12-31 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000123585 SCV001361191 likely benign not specified 2020-08-11 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000606154 SCV000734580 benign Long QT syndrome 11 no assertion criteria provided clinical testing

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