ClinVar Miner

Submissions for variant NM_005751.5(AKAP9):c.4825_4826delinsCA (p.Arg1609Gln)

dbSNP: rs786205707
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000208405 SCV000263770 uncertain significance Ventricular fibrillation 2015-08-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000525443 SCV000627737 likely benign Long QT syndrome 2024-01-21 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV001256720 SCV001433126 uncertain significance not provided 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002326932 SCV002634020 benign Cardiovascular phenotype 2022-06-07 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.

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