ClinVar Miner

Submissions for variant NM_005751.4(AKAP9):c.8286A>C (p.Lys2762Asn) (rs144875383)

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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 RCV000171724 SCV000055233 likely benign not provided 2013-06-24 criteria provided, single submitter research
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000171724 SCV000229669 uncertain significance not provided 2015-01-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000241571 SCV000319822 likely benign Cardiovascular phenotype 2017-12-16 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)
Invitae RCV000171724 SCV000563335 likely benign not provided 2019-02-05 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000624954 SCV000743176 likely benign Long QT syndrome 11 2014-10-09 criteria provided, single submitter clinical testing

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