ClinVar Miner

Submissions for variant NM_005751.5(AKAP9):c.9092A>G (p.Gln3031Arg)

gnomAD frequency: 0.00583  dbSNP: rs61757673
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000171782 SCV000050740 benign not specified 2013-06-24 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV000205866 SCV000260271 benign Long QT syndrome 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620913 SCV000735327 benign Cardiovascular phenotype 2016-03-15 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.
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000853023 SCV000995780 benign Cardiomyopathy; Ventricular fibrillation 2019-05-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253269 SCV002524870 benign Long QT syndrome 11 2021-12-05 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000171782 SCV002819813 likely benign not specified 2022-12-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004712150 SCV005269152 benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV000171782 SCV001923205 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000171782 SCV001957167 benign not specified no assertion criteria provided clinical testing

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