ClinVar Miner

Submissions for variant NM_005751.5(AKAP9):c.4246-6A>T

gnomAD frequency: 0.00040  dbSNP: rs192046591
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001085558 SCV000752930 likely benign Long QT syndrome 2023-12-19 criteria provided, single submitter clinical testing
GeneDx RCV000631833 SCV001943016 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001701424 SCV001921495 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001701424 SCV001952011 benign not specified no assertion criteria provided clinical testing

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