ClinVar Miner

Submissions for variant NM_001453.3(FOXC1):c.474C>T (p.Ser158=)

gnomAD frequency: 0.00004  dbSNP: rs369346224
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596026 SCV000701952 uncertain significance not provided 2016-10-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002062004 SCV002390193 likely benign Axenfeld-Rieger syndrome type 3 2023-05-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003945377 SCV004762597 likely benign FOXC1-related disorder 2019-10-02 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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