ClinVar Miner

Submissions for variant NM_005751.5(AKAP9):c.9214-6T>C

gnomAD frequency: 0.00033  dbSNP: rs377532409
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000357166 SCV000470321 uncertain significance Congenital long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506297 SCV000602459 likely benign not specified 2017-01-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000299936 SCV001003904 benign Long QT syndrome 2023-11-13 criteria provided, single submitter clinical testing

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