ClinVar Miner

Submissions for variant NM_005751.5(AKAP9):c.4908A>G (p.Gln1636=)

gnomAD frequency: 0.00001  dbSNP: rs777713030
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001499200 SCV001703958 likely benign Long QT syndrome 2022-08-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002334545 SCV002635833 likely benign Cardiovascular phenotype 2020-02-02 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.
Breakthrough Genomics, Breakthrough Genomics RCV004706229 SCV005220989 likely benign not provided criteria provided, single submitter not provided

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