ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.1485+19A>G

gnomAD frequency: 0.00002  dbSNP: rs3025731
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000608063 SCV000728666 benign not specified 2017-09-14 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002066657 SCV002492823 likely benign Long QT syndrome 2024-04-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253522 SCV002524997 benign Cardiac arrhythmia, ankyrin-B-related 2021-12-05 criteria provided, single submitter clinical testing

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