ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.141CCA[8] (p.His57dup)

dbSNP: rs587783630
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704231 SCV000241016 likely benign not provided 2019-09-16 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22190898)
Invitae RCV000918423 SCV001063733 likely benign Rett syndrome, congenital variant 2024-01-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003965222 SCV004784225 likely benign FOXG1-related condition 2022-02-07 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
RettBASE RCV000170066 SCV000222375 benign not specified 2012-05-18 no assertion criteria provided curation

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