ClinVar Miner

Submissions for variant NM_005751.4(AKAP9):c.10254G>C (p.Gln3418His) (rs61757663)

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Total submissions: 5
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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 RCV000170640 SCV000055240 likely benign not provided 2013-06-24 criteria provided, single submitter research
GeneDx RCV000185488 SCV000223192 likely benign not specified 2011-08-23 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 RCV001082130 SCV000627706 likely benign Long QT syndrome 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000170640 SCV001155130 uncertain significance not provided 2017-04-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001001400 SCV001158608 likely benign Long QT syndrome 11 2018-09-18 criteria provided, single submitter clinical testing

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