ClinVar Miner

Submissions for variant NM_005751.4(AKAP9):c.10767G>A (p.Leu3589=) (rs56198613)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617636 SCV000735889 likely benign Cardiovascular phenotype 2015-09-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625230 SCV000744224 likely benign Long QT syndrome 11 2017-06-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000178555 SCV000230658 uncertain significance not provided 2015-01-09 criteria provided, single submitter clinical testing
Invitae RCV000229749 SCV000289081 benign Long QT syndrome 2017-11-15 criteria provided, single submitter clinical testing

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