ClinVar Miner

Submissions for variant NM_005751.4(AKAP9):c.6945+8C>T (rs733957)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000123580 SCV000166919 benign not specified 2011-07-10 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000123580 SCV000229332 benign not specified 2015-06-08 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000123580 SCV000311259 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000279126 SCV000470291 likely benign Romano-Ward syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000397476 SCV001000267 benign Long QT syndrome 2019-12-31 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000123580 SCV001361194 benign not specified 2019-08-12 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000616426 SCV000734579 benign Long QT syndrome 11 no assertion criteria provided clinical testing

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