ClinVar Miner

Submissions for variant NM_005751.5(AKAP9):c.9648A>G (p.Lys3216=)

gnomAD frequency: 0.00289  dbSNP: rs146710448
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000233375 SCV000289105 benign Long QT syndrome 2024-01-18 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000320983 SCV000470326 uncertain significance Congenital long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621715 SCV000735239 benign Cardiovascular phenotype 2015-12-02 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001280933 SCV001468279 benign not specified 2020-12-21 criteria provided, single submitter clinical testing
GeneDx RCV001711789 SCV001944454 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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