ClinVar Miner

Submissions for variant NM_006420.3(ARFGEF2):c.1953C>T (p.Ile651=)

gnomAD frequency: 0.00011  dbSNP: rs377322572
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502595 SCV000593296 likely benign not specified 2016-03-14 criteria provided, single submitter clinical testing
Invitae RCV000875246 SCV001017541 likely benign not provided 2023-07-26 criteria provided, single submitter clinical testing
GeneDx RCV000875246 SCV001822360 likely benign not provided 2019-10-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003960147 SCV004767601 likely benign ARFGEF2-related disorder 2019-02-22 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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