ClinVar Miner

Submissions for variant NM_001453.3(FOXC1):c.114C>T (p.Thr38=)

gnomAD frequency: 0.00104  dbSNP: rs538126253
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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) RCV000339920 SCV000340157 likely benign not specified 2018-07-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002059203 SCV002396266 likely benign Axenfeld-Rieger syndrome type 3 2024-01-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003957462 SCV004770625 likely benign FOXC1-related disorder 2019-04-26 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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