ClinVar Miner

Submissions for variant NM_005751.4(AKAP9):c.6556T>C (p.Ser2186Pro) (rs76177450)

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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 RCV000171722 SCV000055232 likely benign not provided 2013-06-24 criteria provided, single submitter research
Invitae RCV001080872 SCV000261246 benign Long QT syndrome 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000243812 SCV000318603 likely benign Cardiovascular phenotype 2018-09-07 criteria provided, single submitter clinical testing Subpopulation frequency in support of benign classification;In silico models in agreement (benign)
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000624953 SCV000743175 likely benign Long QT syndrome 11 2014-10-09 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000853018 SCV000995775 benign Cardiomyopathy; Long QT syndrome 2019-04-01 criteria provided, single submitter clinical testing

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