ClinVar Miner

Submissions for variant NM_005751.4(AKAP9):c.80C>T (p.Ser27Leu) (rs142401936)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000123591 SCV000602460 benign not specified 2017-03-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618431 SCV000735921 likely benign Cardiovascular phenotype 2017-05-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,Co-occurence with a mutation in another gene that clearly explains a proband's phenotype
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000171712 SCV000050732 likely benign not provided 2013-06-24 criteria provided, single submitter research
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000624947 SCV000744222 likely benign Long QT syndrome 11 2016-09-21 criteria provided, single submitter clinical testing
GeneDx RCV000123591 SCV000166930 benign not specified 2013-02-15 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.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000624947 SCV000743169 likely benign Long QT syndrome 11 2017-03-14 criteria provided, single submitter clinical testing
Invitae RCV000631758 SCV000752848 likely benign Long QT syndrome 2017-12-27 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000171712 SCV000987596 likely benign not provided criteria provided, single submitter clinical testing

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