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
Invitae RCV000205658 SCV000261096 benign Long QT syndrome 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000246728 SCV000319007 likely benign Cardiovascular phenotype 2018-12-11 criteria provided, single submitter clinical testing Subpopulation frequency in support of benign classification;In silico models in agreement (benign)
Illumina Clinical Services Laboratory,Illumina RCV000297662 SCV000470277 uncertain significance Romano-Ward syndrome 2016-06-14 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000624952 SCV000743174 likely benign Long QT syndrome 11 2017-04-11 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000624952 SCV001158593 likely benign Long QT syndrome 11 2018-10-10 criteria provided, single submitter clinical testing

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