ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.245C>A (p.Pro82Gln)

gnomAD frequency: 0.00030  dbSNP: rs796052453
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704984 SCV000241030 likely benign not provided 2019-11-08 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000187439 SCV000613348 uncertain significance not specified 2016-10-14 criteria provided, single submitter clinical testing
Invitae RCV000648322 SCV000770138 likely benign Rett syndrome, congenital variant 2024-01-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311266 SCV000847111 likely benign Inborn genetic diseases 2018-03-06 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Genetic Services Laboratory, University of Chicago RCV000187439 SCV002065064 likely benign not specified 2019-01-23 criteria provided, single submitter clinical testing

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