ClinVar Miner

Submissions for variant NM_001453.3(FOXC1):c.1338CGG[6] (p.Gly455_Gly456del)

dbSNP: rs398123612
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002130123 SCV002440410 likely benign Axenfeld-Rieger syndrome type 3 2023-12-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003883784 SCV004701573 benign not provided 2023-11-01 criteria provided, single submitter clinical testing FOXC1: BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003933547 SCV004753986 likely benign FOXC1-related disorder 2023-09-19 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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