ClinVar Miner

Submissions for variant NM_006420.3(ARFGEF2):c.756C>T (p.Asn252=)

gnomAD frequency: 0.00031  dbSNP: rs114729625
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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 RCV000501749 SCV000593290 likely benign not specified 2017-05-01 criteria provided, single submitter clinical testing
Invitae RCV003727741 SCV004537644 benign not provided 2023-12-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003942623 SCV004757411 likely benign ARFGEF2-related disorder 2024-01-03 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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