ClinVar Miner

Submissions for variant NM_005751.5(AKAP9):c.6018A>G (p.Leu2006=)

dbSNP: rs547028589
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001506576 SCV001711501 likely benign Long QT syndrome 2022-10-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002359137 SCV002657622 likely benign Cardiovascular phenotype 2022-07-25 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.

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