ClinVar Miner

Submissions for variant NM_006420.3(ARFGEF2):c.4756-7C>T

dbSNP: rs868504867
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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 RCV000500276 SCV000593309 uncertain significance not specified 2016-05-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003902759 SCV004727404 likely benign ARFGEF2-related disorder 2019-03-01 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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