ClinVar Miner

Submissions for variant NM_005751.5(AKAP9):c.11714T>C (p.Met3905Thr)

gnomAD frequency: 0.00014  dbSNP: rs77447750
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000171590 SCV000055251 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Illumina Laboratory Services, Illumina RCV000346721 SCV000470375 uncertain significance Congenital long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000284774 SCV000627716 benign Long QT syndrome 2023-12-12 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000853028 SCV000995785 likely benign Hypertrophic cardiomyopathy 2017-11-14 criteria provided, single submitter clinical testing
GeneDx RCV000171590 SCV001905301 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002326938 SCV002632939 likely benign Cardiovascular phenotype 2020-08-28 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003230431 SCV003928241 likely benign not specified 2023-04-09 criteria provided, single submitter clinical testing
Dept of Medical Biology, Uskudar University RCV000284774 SCV004022071 uncertain significance Long QT syndrome 2024-01-08 criteria provided, single submitter research Criteria: BS1

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