ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.219_221GCC[7] (p.Pro80dup) (rs786200975)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153263 SCV000202738 uncertain significance not provided 2015-05-04 criteria provided, single submitter clinical testing
GeneDx RCV000187438 SCV000241029 likely benign not specified 2017-11-28 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.
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000408882 SCV000484840 likely benign Rett syndrome, congenital variant 2016-11-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000187438 SCV000594857 likely benign not specified 2016-04-22 criteria provided, single submitter clinical testing
Invitae RCV000408882 SCV000650046 likely benign Rett syndrome, congenital variant 2019-12-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717044 SCV000847889 likely benign History of neurodevelopmental disorder 2017-12-14 criteria provided, single submitter clinical testing Other strong data supporting benign classification

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