ClinVar Miner

Submissions for variant NM_005751.4(AKAP9):c.5978-4A>G (rs147494754)

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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 RCV000246728 SCV000319007 likely benign Cardiovascular phenotype 2017-11-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,In silico models in agreement (benign)
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000624952 SCV000743174 likely benign Long QT syndrome 11 2017-04-11 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000205658 SCV000470276 uncertain significance Long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000297662 SCV000470277 uncertain significance Romano-Ward syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000205658 SCV000261096 benign Long QT syndrome 2017-12-12 criteria provided, single submitter clinical testing

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