ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.2970A>C (p.Arg990=)

gnomAD frequency: 0.00336  dbSNP: rs35956627
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000170655 SCV000223207 benign not specified 2014-07-16 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.
Invitae RCV000231973 SCV000286242 benign Long QT syndrome 2024-01-15 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000231973 SCV000447165 likely benign Long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000622172 SCV000737048 benign Cardiovascular phenotype 2016-06-01 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: 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.
Genome-Nilou Lab RCV002253260 SCV002525023 benign Cardiac arrhythmia, ankyrin-B-related 2021-12-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002253260 SCV002813188 benign Cardiac arrhythmia, ankyrin-B-related 2021-07-28 criteria provided, single submitter clinical testing

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