ClinVar Miner

Submissions for variant NM_006420.3(ARFGEF2):c.5238C>T (p.Asp1746=)

gnomAD frequency: 0.00003  dbSNP: rs371687802
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001754040 SCV001986995 uncertain significance not provided 2019-05-21 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes splice predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001754040 SCV002367914 likely benign not provided 2022-01-20 criteria provided, single submitter clinical testing

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