ClinVar Miner

Submissions for variant NM_006420.3(ARFGEF2):c.3758-3del

dbSNP: rs797045256
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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 RCV000194389 SCV000246469 uncertain significance not specified 2014-06-05 criteria provided, single submitter clinical testing
Invitae RCV002517048 SCV002942196 benign not provided 2023-09-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002517047 SCV003547274 uncertain significance Inborn genetic diseases 2021-12-03 criteria provided, single submitter clinical testing The c.3758-3delC alteration consists of a deletion of a C 3 nucleotides after exon 27 of the ARFGEF2 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003947593 SCV004766232 likely benign ARFGEF2-related disorder 2023-08-23 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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