ClinVar Miner

Submissions for variant NM_005751.5(AKAP9):c.10518C>T (p.Thr3506=)

gnomAD frequency: 0.00021  dbSNP: rs377663331
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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 RCV001401825 SCV001603659 likely benign Long QT syndrome 2022-06-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002402368 SCV002704640 likely benign Cardiovascular phenotype 2019-11-06 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.
CeGaT Center for Human Genetics Tuebingen RCV003437225 SCV004164297 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing AKAP9: BP4, BP7

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