ClinVar Miner

Submissions for variant NM_005751.4(AKAP9):c.8485G>A (p.Glu2829Lys) (rs149946443)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000251850 SCV000318430 benign Cardiovascular phenotype 2015-07-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000439400 SCV000511118 likely benign not provided 2016-07-22 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625229 SCV000744223 benign Long QT syndrome 11 2017-07-13 criteria provided, single submitter clinical testing
Invitae RCV000554569 SCV000627762 benign Long QT syndrome 2017-06-28 criteria provided, single submitter clinical testing

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