ClinVar Miner

Submissions for variant NM_005751.5(AKAP9):c.5565A>G (p.Glu1855=)

gnomAD frequency: 0.00003  dbSNP: rs141094356
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000624951 SCV000743173 likely benign Long QT syndrome 11 2017-04-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001438446 SCV001641319 likely benign Long QT syndrome 2023-12-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002343178 SCV002650007 likely benign Cardiovascular phenotype 2019-10-31 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003488736 SCV004242117 likely benign not specified 2023-12-10 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001701121 SCV001923519 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001701121 SCV001955210 likely benign not provided no assertion criteria provided clinical testing

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