ClinVar Miner

Submissions for variant NM_020987.5(ANK3):c.2200C>T (p.Leu734=)

gnomAD frequency: 0.00120  dbSNP: rs144696256
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001817155 SCV002068787 likely benign not specified 2017-08-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002074270 SCV002403051 benign not provided 2024-12-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004542122 SCV004786397 likely benign ANK3-related disorder 2024-01-03 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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