ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.7059A>G (p.Gln2353=)

gnomAD frequency: 0.00124  dbSNP: rs145782226
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000458409 SCV000557192 benign Long QT syndrome 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001696907 SCV000714712 likely benign not provided 2019-12-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617827 SCV000737418 likely benign Cardiovascular phenotype 2017-03-27 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001696907 SCV001472533 benign not provided 2021-02-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253449 SCV002525058 benign Cardiac arrhythmia, ankyrin-B-related 2021-12-05 criteria provided, single submitter clinical testing

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