ClinVar Miner

Submissions for variant NM_005751.5(AKAP9):c.11682G>A (p.Gln3894=)

dbSNP: rs769718964
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001458157 SCV001661972 likely benign Long QT syndrome 2023-04-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002329525 SCV002626646 likely benign Cardiovascular phenotype 2021-02-09 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.
Fulgent Genetics, Fulgent Genetics RCV002495653 SCV002798480 likely benign Long QT syndrome 11 2021-09-01 criteria provided, single submitter clinical testing

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