ClinVar Miner

Submissions for variant NM_005751.5(AKAP9):c.9358+11T>C

gnomAD frequency: 0.00101  dbSNP: rs199714035
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001702978 SCV001944452 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002077134 SCV002405960 benign Long QT syndrome 2024-01-13 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253963 SCV002524874 benign Long QT syndrome 11 2021-12-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002253963 SCV002795942 likely benign Long QT syndrome 11 2021-07-26 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001699695 SCV005202462 benign not specified 2024-07-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001702978 SCV005269163 benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV001699695 SCV001919033 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702978 SCV001932758 likely benign not provided no assertion criteria provided clinical testing

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