ClinVar Miner

Submissions for variant NM_005751.5(AKAP9):c.6945+8C>T

gnomAD frequency: 0.40759  dbSNP: rs733957
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000123580 SCV000166919 benign not specified 2011-07-10 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga) RCV000123580 SCV000229332 benign not specified 2015-06-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000123580 SCV000311259 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000279126 SCV000470291 likely benign Congenital long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000397476 SCV001000267 benign Long QT syndrome 2024-02-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000123580 SCV001361194 benign not specified 2019-08-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000616426 SCV002524856 benign Long QT syndrome 11 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004706549 SCV005220996 likely benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000616426 SCV000734579 benign Long QT syndrome 11 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000123580 SCV001921453 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000123580 SCV001955743 benign not specified no assertion criteria provided clinical testing

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