ClinVar Miner

Submissions for variant NM_005751.4(AKAP9):c.5246T>C (p.Ile1749Thr) (rs150016098)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618857 SCV000737633 uncertain significance Cardiovascular phenotype 2016-07-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000171719 SCV000050736 likely benign not provided 2013-06-24 criteria provided, single submitter research
GeneDx RCV000123577 SCV000166916 benign not specified 2011-12-14 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.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000624950 SCV000743172 likely benign Long QT syndrome 11 2017-06-09 criteria provided, single submitter clinical testing
Invitae RCV000456988 SCV000563323 likely benign Long QT syndrome 2017-02-20 criteria provided, single submitter clinical testing

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