ClinVar Miner

Submissions for variant NM_005751.5(AKAP9):c.5058+12T>G

gnomAD frequency: 0.00012  dbSNP: rs373705132
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000170613 SCV000223165 benign not specified 2014-07-22 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002054019 SCV002433103 likely benign Long QT syndrome 2024-12-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253255 SCV002524843 benign Long QT syndrome 11 2021-12-05 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000170613 SCV004038430 benign not specified 2023-08-08 criteria provided, single submitter clinical testing

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