ClinVar Miner

Submissions for variant NM_005751.5(AKAP9):c.11135G>A (p.Arg3712Gln)

gnomAD frequency: 0.00026  dbSNP: rs186148498
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Total submissions: 5
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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 RCV000171731 SCV000055246 likely benign not provided 2013-06-24 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001087509 SCV000563346 benign Long QT syndrome 2024-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619885 SCV000737814 likely benign Cardiovascular phenotype 2019-01-14 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.
Genome-Nilou Lab RCV002253262 SCV002524889 benign Long QT syndrome 11 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000171731 SCV005221019 likely benign not provided criteria provided, single submitter not provided

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