ClinVar Miner

Submissions for variant NM_005751.4(AKAP9):c.11273G>A (p.Arg3758His) (rs141856443)

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Total submissions: 4
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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 RCV000171734 SCV000055249 likely benign not provided 2013-06-24 criteria provided, single submitter research
Ambry Genetics RCV000248078 SCV000319039 likely benign Cardiovascular phenotype 2019-02-03 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
Invitae RCV001085477 SCV000563320 benign Long QT syndrome 2020-10-24 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000853027 SCV000995784 benign Primary dilated cardiomyopathy; Amyloidosis 2018-10-30 criteria provided, single submitter clinical testing

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