ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.194CGC[6] (p.Pro69dup)

dbSNP: rs761703699
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel RCV003235093 SCV003933692 benign FOXG1 disorder 2023-04-14 reviewed by expert panel curation The allele frequency of the c.206_208dup variant in FOXG1 is 0.076% in East Asian sub population in gnomAD, which is high enough to be classified as benign based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BA1). The c.206_208dup (p.Pro69_Gln70insPro) variant is observed in at least 2 unaffected individuals (GeneDx internal database)(BS2). The c.206_208dup variant is an in-frame duplication present in a repetitive region of FOXG1 (BP3). In summary, the c.206_208dup variant in FOXG1 is classified as benign based on the ACMG/AMP criteria (BA1, BS2, BP3).
Eurofins Ntd Llc (ga) RCV000173366 SCV000224469 uncertain significance not provided 2015-05-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001451542 SCV001655173 likely benign Rett syndrome, congenital variant 2024-01-10 criteria provided, single submitter clinical testing
GeneDx RCV000173366 SCV001894743 benign not provided 2020-04-14 criteria provided, single submitter clinical testing

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