ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.209_235del (p.Gln70_Pro78del) (rs587783634)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000145986 SCV000193135 uncertain significance Rett syndrome, congenital variant 2014-03-06 criteria provided, single submitter clinical testing
GeneDx RCV000187435 SCV000241026 likely benign not specified 2016-02-15 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.
Invitae RCV000145986 SCV000676976 likely benign Rett syndrome, congenital variant 2019-11-13 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000187435 SCV000703762 likely benign not specified 2017-06-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720733 SCV000851614 likely benign History of neurodevelopmental disorder 2017-03-17 criteria provided, single submitter clinical testing Other data supporting benign classification

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