ClinVar Miner

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

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Total submissions: 7
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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 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.
Invitae RCV001084388 SCV000563323 likely benign Long QT syndrome 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618857 SCV000737633 likely benign Cardiovascular phenotype 2019-02-08 criteria provided, single submitter clinical testing Other strong data supporting benign classification
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000624950 SCV000743172 likely benign Long QT syndrome 11 2017-06-09 criteria provided, single submitter clinical testing
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute RCV000853459 SCV000996370 benign unspecified heart condition 2017-12-20 criteria provided, single submitter research This variant has been identified as part of our research program. Refer to the 'condition' field for the phenotype of the proband(s) identified with this variant. For further information please feel free to contact us.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000171719 SCV001155120 likely benign not provided 2017-06-01 criteria provided, single submitter clinical testing

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