ClinVar Miner

Submissions for variant NM_005751.5(AKAP9):c.6134A>G (p.Asn2045Ser)

gnomAD frequency: 0.00279  dbSNP: rs139963188
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000477279 SCV000563334 benign Long QT syndrome 2024-01-23 criteria provided, single submitter clinical testing
GeneDx RCV001618711 SCV001847506 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29350269)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001824793 SCV002074283 likely benign not specified 2022-01-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253459 SCV002524848 benign Long QT syndrome 11 2021-12-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002356759 SCV002657025 benign Cardiovascular phenotype 2018-11-07 criteria provided, single submitter clinical testing This alteration is classified as 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.
PreventionGenetics, part of Exact Sciences RCV003942576 SCV004775049 benign AKAP9-related disorder 2019-11-14 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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