ClinVar Miner

Submissions for variant NM_001453.3(FOXC1):c.502C>T (p.Leu168=)

gnomAD frequency: 0.00363  dbSNP: rs148739656
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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) RCV000153258 SCV000202733 benign not specified 2014-04-28 criteria provided, single submitter clinical testing
Invitae RCV001513299 SCV001720892 benign Axenfeld-Rieger syndrome type 3 2024-01-26 criteria provided, single submitter clinical testing
GeneDx RCV000646230 SCV001997903 likely benign not provided 2019-06-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003917500 SCV004741026 benign FOXC1-related condition 2020-01-02 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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