ClinVar Miner

Submissions for variant NM_006420.3(ARFGEF2):c.2276+6C>T

gnomAD frequency: 0.00008  dbSNP: rs368941506
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194983 SCV000246464 uncertain significance not specified 2014-05-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003907673 SCV004724859 likely benign ARFGEF2-related disorder 2019-06-18 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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