ClinVar Miner

Submissions for variant NM_005751.5(AKAP9):c.5496A>G (p.Gly1832=)

dbSNP: rs886062474
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000283253 SCV000470265 uncertain significance Congenital long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002348112 SCV002648610 likely benign Cardiovascular phenotype 2018-09-12 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.
Fulgent Genetics, Fulgent Genetics RCV002480246 SCV002789521 uncertain significance Long QT syndrome 11 2021-08-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002519509 SCV003294487 likely benign Long QT syndrome 2023-08-11 criteria provided, single submitter clinical testing

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