ClinVar Miner

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

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000178555 SCV000230658 uncertain significance not provided 2015-01-09 criteria provided, single submitter clinical testing
Invitae RCV001086580 SCV000289081 benign Long QT syndrome 2020-12-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617636 SCV000735889 likely benign Cardiovascular phenotype 2015-09-16 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625230 SCV000744224 likely benign Long QT syndrome 11 2017-06-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001260416 SCV001437407 benign not specified 2020-09-06 criteria provided, single submitter clinical testing
GeneDx RCV000178555 SCV001827990 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Clinical Genetics,Academic Medical Center RCV001260416 SCV001919364 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000178555 SCV001954441 likely benign not provided no assertion criteria provided clinical testing

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