ClinVar Miner

Submissions for variant NM_005751.4(AKAP9):c.8935C>T (p.Pro2979Ser) (rs1063242)

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Total submissions: 9
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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 RCV000171725 SCV000050739 likely benign not provided 2013-06-24 criteria provided, single submitter research
GeneDx RCV000123587 SCV000166926 benign not specified 2011-08-08 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000123587 SCV000229836 benign not specified 2015-06-08 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000123587 SCV000311263 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000248223 SCV000317642 benign Cardiovascular phenotype 2015-03-09 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Illumina Clinical Services Laboratory,Illumina RCV000282743 SCV000470311 likely benign Romano-Ward syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000380065 SCV001000053 benign Long QT syndrome 2019-12-31 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000123587 SCV001361186 benign not specified 2019-08-12 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000615983 SCV000734582 benign Long QT syndrome 11 no assertion criteria provided clinical testing

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