ClinVar Miner

Submissions for variant NM_001453.3(FOXC1):c.78C>T (p.Tyr26=)

gnomAD frequency: 0.00014  dbSNP: rs545478008
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173255 SCV000224351 uncertain significance not provided 2016-10-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002054046 SCV002444993 likely benign Axenfeld-Rieger syndrome type 3 2023-10-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000173255 SCV004158204 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing FOXC1: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003947460 SCV004761466 likely benign FOXC1-related disorder 2023-08-28 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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