ClinVar Miner

Submissions for variant NM_005751.4(AKAP9):c.10664A>T (p.Asp3555Val) (rs139046510)

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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 RCV000170642 SCV000055242 likely benign not provided 2013-06-24 criteria provided, single submitter research
GeneDx RCV000185490 SCV000223194 likely benign not specified 2012-03-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000250287 SCV000320173 likely benign Cardiovascular phenotype 2019-05-06 criteria provided, single submitter clinical testing Subpopulation frequency in support of benign classification
Illumina Clinical Services Laboratory,Illumina RCV000365126 SCV000470344 uncertain significance Romano-Ward syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000272838 SCV000563340 likely benign Long QT syndrome 2019-12-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000624956 SCV000743178 likely benign Long QT syndrome 11 2016-01-18 criteria provided, single submitter clinical testing

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