ClinVar Miner

Submissions for variant NM_005751.5(AKAP9):c.10406C>T (p.Thr3469Met)

gnomAD frequency: 0.00016  dbSNP: rs746860114
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000251135 SCV000319758 likely benign Cardiovascular phenotype 2020-07-30 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.
Invitae RCV000862876 SCV001003440 likely benign Long QT syndrome 2023-12-28 criteria provided, single submitter clinical testing
Dept of Medical Biology, Uskudar University RCV000862876 SCV004022025 likely benign Long QT syndrome 2024-01-08 criteria provided, single submitter research Criteria: BS1, BP4

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