ClinVar Miner

Submissions for variant NM_005751.5(AKAP9):c.6696A>G (p.Gln2232=)

gnomAD frequency: 0.00065  dbSNP: rs147194783
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000245408 SCV000319688 likely benign Cardiovascular phenotype 2015-06-18 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 RCV000550430 SCV000627750 benign Long QT syndrome 2024-01-03 criteria provided, single submitter clinical testing
GeneDx RCV001534470 SCV001751403 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253339 SCV002524854 benign Long QT syndrome 11 2021-12-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001534470 SCV004164292 benign not provided 2022-09-01 criteria provided, single submitter clinical testing AKAP9: BS1, BS2

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