ClinVar Miner

Submissions for variant NM_005751.5(AKAP9):c.6946-5A>G

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002362444 SCV002664354 uncertain significance Cardiovascular phenotype 2022-08-25 criteria provided, single submitter clinical testing The c.6946-5A>G intronic variant results from an A to G substitution 5 nucleotides upstream from coding exon 31 in the AKAP9 gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003647903 SCV004404905 likely benign Long QT syndrome 2024-01-10 criteria provided, single submitter clinical testing

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