ClinVar Miner

Submissions for variant NM_006420.3(ARFGEF2):c.3222-65G>A

gnomAD frequency: 0.23483  dbSNP: rs3764681
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000839002 SCV000980880 benign not provided 2018-06-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV001554017 SCV001775159 benign Periventricular heterotopia with microcephaly, autosomal recessive 2021-07-14 criteria provided, single submitter clinical testing

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