ClinVar Miner

Submissions for variant NM_001453.3(FOXC1):c.1338CGG[11] (p.Gly454_Gly456dup)

dbSNP: rs398123612
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002093860 SCV002428386 likely benign Axenfeld-Rieger syndrome type 3 2024-01-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003970998 SCV004777382 likely benign FOXC1-related disorder 2022-06-17 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).

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