ClinVar Miner

Submissions for variant NM_006420.3(ARFGEF2):c.48G>A (p.Glu16=)

gnomAD frequency: 0.00005  dbSNP: rs760130632
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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 RCV001820402 SCV002071237 uncertain significance not specified 2019-10-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002074331 SCV002439198 likely benign not provided 2022-06-13 criteria provided, single submitter clinical testing

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