ClinVar Miner

Submissions for variant NM_005751.5(AKAP9):c.10767G>A (p.Leu3589=)

gnomAD frequency: 0.00111  dbSNP: rs56198613
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178555 SCV000230658 uncertain significance not provided 2015-01-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001086580 SCV000289081 benign Long QT syndrome 2023-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617636 SCV000735889 likely benign Cardiovascular phenotype 2015-09-16 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
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
CeGaT Center for Human Genetics Tuebingen RCV000178555 SCV004164298 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing AKAP9: BP4, BP7
Clinical Genetics, Academic Medical Center RCV001260416 SCV001919364 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000178555 SCV001954441 likely benign not provided no assertion criteria provided clinical testing

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