ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.141CCA[6] (p.His57del)

dbSNP: rs587783630
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145982 SCV000193131 likely benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002312641 SCV000845955 benign Inborn genetic diseases 2019-03-15 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV001523468 SCV001733174 benign Rett syndrome, congenital variant 2021-08-27 criteria provided, single submitter clinical testing

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