ClinVar Miner

Submissions for variant NM_006420.3(ARFGEF2):c.770G>A (p.Arg257Lys)

gnomAD frequency: 0.00004  dbSNP: rs150046458
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000873736 SCV000715238 likely benign not provided 2020-02-04 criteria provided, single submitter clinical testing
Invitae RCV000873736 SCV001015791 likely benign not provided 2023-07-17 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003139908 SCV003826875 uncertain significance Periventricular heterotopia with microcephaly, autosomal recessive 2019-01-31 criteria provided, single submitter clinical testing

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