ClinVar Miner

Submissions for variant NM_005751.5(AKAP9):c.4149-4T>C

gnomAD frequency: 0.00001  dbSNP: rs565975524
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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 RCV000621247 SCV000738001 uncertain significance Cardiovascular phenotype 2017-05-16 criteria provided, single submitter clinical testing The c.4149-4T>C intronic variant results from a T to C substitution 4 nucleotides upstream from coding exon 15 in the AKAP9 gene. This nucleotide position is highly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003647795 SCV004554070 likely benign Long QT syndrome 2023-04-05 criteria provided, single submitter clinical testing

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