ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.209_229del (p.Gln70_Pro76del) (rs1466028633)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000614823 SCV000732051 likely benign not specified 2017-02-14 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.
Ambry Genetics RCV000715842 SCV000846673 uncertain significance History of neurodevelopmental disorder 2016-06-06 criteria provided, single submitter clinical testing Insufficient evidence
Invitae RCV000866884 SCV001008042 likely benign Rett syndrome, congenital variant 2019-12-31 criteria provided, single submitter clinical testing

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