ClinVar Miner

Submissions for variant NM_005751.5(AKAP9):c.4148+18G>C

gnomAD frequency: 0.00017  dbSNP: rs375733678
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ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001621713 SCV001844726 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002072934 SCV002393310 likely benign Long QT syndrome 2024-01-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253907 SCV002524835 benign Long QT syndrome 11 2021-12-05 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004690119 SCV005185570 benign not specified 2024-05-20 criteria provided, single submitter clinical testing

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