ClinVar Miner

Submissions for variant NM_006420.3(ARFGEF2):c.1398T>C (p.Phe466=)

gnomAD frequency: 0.00081  dbSNP: rs141596938
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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 RCV000116396 SCV000150320 benign not specified 2014-03-03 criteria provided, single submitter clinical testing
Invitae RCV000874498 SCV001016682 likely benign not provided 2023-07-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003952563 SCV004771307 likely benign ARFGEF2-related disorder 2022-05-02 criteria provided, single submitter 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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