ClinVar Miner

Submissions for variant NM_005751.5(AKAP9):c.3223T>C (p.Leu1075=)

gnomAD frequency: 0.00064  dbSNP: rs143712699
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001084713 SCV000262294 benign Long QT syndrome 2024-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618805 SCV000737407 likely benign Cardiovascular phenotype 2016-05-24 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002253290 SCV000883386 benign Long QT syndrome 11 2023-09-06 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001293562 SCV001482166 benign not specified 2021-02-08 criteria provided, single submitter clinical testing
GeneDx RCV000755805 SCV001944422 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253290 SCV002524825 benign Long QT syndrome 11 2021-12-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000755805 SCV004810469 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing AKAP9: BP4, BP7
Clinical Genetics, Academic Medical Center RCV001293562 SCV001922091 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000755805 SCV001954431 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000755805 SCV001971328 likely benign not provided no assertion criteria provided clinical testing

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