ClinVar Miner

Submissions for variant NM_005751.5(AKAP9):c.1372G>C (p.Ala458Pro)

gnomAD frequency: 0.00241  dbSNP: rs143894795
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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 RCV000171777 SCV000055226 benign not specified 2013-06-24 criteria provided, single submitter research
Invitae RCV000204048 SCV000259852 benign Long QT syndrome 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619217 SCV000736314 benign Cardiovascular phenotype 2016-09-23 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 RCV000853012 SCV000995769 benign Primary dilated cardiomyopathy 2018-02-07 criteria provided, single submitter clinical testing
GeneDx RCV001557217 SCV001778938 likely benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253265 SCV002524817 benign Long QT syndrome 11 2021-12-05 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000171777 SCV002555686 likely benign not specified 2022-06-06 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000171777 SCV001922355 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000171777 SCV001930321 benign not specified no assertion criteria provided clinical testing

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