ClinVar Miner

Submissions for variant NM_006420.3(ARFGEF2):c.1185C>T (p.Asp395=)

gnomAD frequency: 0.00059  dbSNP: rs140378669
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ClinVar version:
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 RCV000192323 SCV000246456 uncertain significance not specified 2014-09-02 criteria provided, single submitter clinical testing
GeneDx RCV000877664 SCV000732871 likely benign not provided 2019-01-28 criteria provided, single submitter clinical testing
Invitae RCV000877664 SCV001020438 benign not provided 2023-11-24 criteria provided, single submitter clinical testing

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