ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.1881+9C>A

gnomAD frequency: 0.00003  dbSNP: rs200659747
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001518856 SCV001727630 benign Long QT syndrome 2020-06-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003975414 SCV004790996 likely benign ANK2-related disorder 2019-08-09 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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