ClinVar Miner

Submissions for variant NM_006420.3(ARFGEF2):c.728C>G (p.Thr243Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003141484 SCV003826874 uncertain significance Periventricular heterotopia with microcephaly, autosomal recessive 2021-08-06 criteria provided, single submitter clinical testing

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