ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.11860-18T>G

gnomAD frequency: 0.00207  dbSNP: rs138978479
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000123650 SCV000166989 benign not specified 2015-12-03 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000123650 SCV001158281 benign not specified 2019-04-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002055414 SCV002445034 benign Long QT syndrome 2025-01-27 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253233 SCV002525106 benign Cardiac arrhythmia, ankyrin-B-related 2021-12-05 criteria provided, single submitter clinical testing

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