ClinVar Miner

Submissions for variant NM_006420.3(ARFGEF2):c.907+9C>T

gnomAD frequency: 0.00003  dbSNP: rs538199862
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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 RCV000116394 SCV000150318 uncertain significance not provided 2012-08-10 criteria provided, single submitter clinical testing
GeneDx RCV000434374 SCV000524176 likely benign not specified 2016-02-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000116394 SCV004475847 likely benign not provided 2022-12-05 criteria provided, single submitter clinical testing

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