ClinVar Miner

Submissions for variant NM_005751.4(AKAP9):c.6037G>A (p.Glu2013Lys) (rs61757671)

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Total submissions: 6
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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 RCV000171720 SCV000050738 likely benign not provided 2013-06-24 criteria provided, single submitter research
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000171720 SCV000228238 uncertain significance not provided 2015-01-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000252240 SCV000319967 likely benign Cardiovascular phenotype 2018-09-26 criteria provided, single submitter clinical testing Subpopulation frequency in support of benign classification;Other data supporting benign classification
Illumina Clinical Services Laboratory,Illumina RCV000267059 SCV000470279 uncertain significance Romano-Ward syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000361700 SCV000563315 likely benign Long QT syndrome 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000999737 SCV000883382 likely benign Long QT syndrome 11 2018-07-12 criteria provided, single submitter clinical testing

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