ClinVar Miner

Submissions for variant NM_006420.3(ARFGEF2):c.2277-16G>A

gnomAD frequency: 0.23578  dbSNP: rs4810905
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000247909 SCV000311488 benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554016 SCV001775158 benign Periventricular heterotopia with microcephaly, autosomal recessive 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001683056 SCV001903962 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Invitae RCV001683056 SCV002490439 benign not provided 2024-01-31 criteria provided, single submitter clinical testing

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