ClinVar Miner

Submissions for variant NM_005751.5(AKAP9):c.4164G>A (p.Ser1388=)

gnomAD frequency: 0.00034  dbSNP: rs146831402
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000380417 SCV000470247 uncertain significance Congenital long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619602 SCV000736042 benign Cardiovascular phenotype 2017-12-05 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001521431 SCV001730772 benign Long QT syndrome 2024-02-01 criteria provided, single submitter clinical testing

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