ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.7831T>C (p.Tyr2611His)

gnomAD frequency: 0.00539  dbSNP: rs35338364
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000230926 SCV000286259 benign Long QT syndrome 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000230926 SCV000447201 likely benign Long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000441698 SCV000517467 benign not specified 2016-11-10 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.
Ambry Genetics RCV000617957 SCV000735174 benign Cardiovascular phenotype 2015-10-01 criteria provided, single submitter clinical testing This alteration is classified as 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.
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000852973 SCV000995722 benign Cardiomyopathy 2017-06-06 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253310 SCV002525065 benign Cardiac arrhythmia, ankyrin-B-related 2021-12-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002253310 SCV002810626 benign Cardiac arrhythmia, ankyrin-B-related 2021-07-28 criteria provided, single submitter clinical testing

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