ClinVar Miner

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

dbSNP: rs587783630
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Total submissions: 5
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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)
Labcorp Genetics (formerly Invitae), Labcorp RCV000918423 SCV001063733 likely benign Rett syndrome, congenital variant 2024-01-22 criteria provided, single submitter clinical testing
Centre for Population Genomics, CPG RCV004558420 SCV005046853 likely benign FOXG1 disorder 2024-05-08 criteria provided, single submitter curation This variant has been collected from RettBASE and curated to current modified ACMG/AMP criteria. Based on the classification scheme defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like Disorders Specifications to the ACMG/AMP Variant Interpretation Guidelines VCEP 3.0, this variant is classified as likely benign. At least the following criteria are met: The allele frequency of this variant in at least one population in gnomAD v4 is between 0.008% and 0.03% (BS1). Inframe expansions in FOXG1 repetitive regions (BP3)
RettBASE RCV000170066 SCV000222375 benign not specified 2012-05-18 no assertion criteria provided curation
PreventionGenetics, part of Exact Sciences RCV003965222 SCV004784225 likely benign FOXG1-related disorder 2022-02-07 no assertion criteria provided 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).

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