ClinVar Miner

Submissions for variant NM_006420.3(ARFGEF2):c.1017G>C (p.Gly339=)

gnomAD frequency: 0.00005  dbSNP: rs765982548
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001822303 SCV002066421 likely benign not specified 2017-07-26 criteria provided, single submitter clinical testing
Invitae RCV002542506 SCV003514477 likely benign not provided 2022-02-08 criteria provided, single submitter clinical testing

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