ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.547T>C (p.Leu183=)

gnomAD frequency: 0.00001  dbSNP: rs146891854
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001483736 SCV001688139 likely benign Long QT syndrome 2024-07-16 criteria provided, single submitter clinical testing
GeneDx RCV001685367 SCV001900931 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253817 SCV002524990 benign Cardiac arrhythmia, ankyrin-B-related 2021-12-05 criteria provided, single submitter clinical testing

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