ClinVar Miner

Submissions for variant NM_005751.5(AKAP9):c.10858A>G (p.Ile3620Val)

gnomAD frequency: 0.00296  dbSNP: rs142729919
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Total submissions: 8
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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 RCV000171784 SCV000055245 benign not specified 2013-06-24 criteria provided, single submitter research
Illumina Laboratory Services, Illumina RCV000279610 SCV000470354 likely benign Congenital long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000341680 SCV000563343 benign Long QT syndrome 2024-01-23 criteria provided, single submitter clinical testing
GeneDx RCV001711460 SCV001944472 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000171784 SCV002074285 likely benign not specified 2022-01-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253271 SCV002524886 benign Long QT syndrome 11 2021-12-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002415730 SCV002725348 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.
Fulgent Genetics, Fulgent Genetics RCV002253271 SCV002805503 likely benign Long QT syndrome 11 2021-09-17 criteria provided, single submitter clinical testing

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