ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.7942G>C (p.Gly2648Arg)

dbSNP: rs199828363
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Total submissions: 3
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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 RCV000171604 SCV000055258 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Ambry Genetics RCV002415729 SCV002681113 likely benign Cardiovascular phenotype 2020-03-25 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
GenomeConnect, ClinGen RCV000844946 SCV000986766 not provided Cardiac arrhythmia, ankyrin-B-related no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 04/18/2018 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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