ClinVar Miner

Submissions for variant NM_001453.3(FOXC1):c.1563T>G (p.Ser521=)

gnomAD frequency: 0.03175  dbSNP: rs73406891
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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) RCV000153260 SCV000202735 benign not specified 2016-03-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000555470 SCV000647077 benign Axenfeld-Rieger syndrome type 3 2025-01-30 criteria provided, single submitter clinical testing
GeneDx RCV001610464 SCV001838113 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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