ClinVar Miner

Submissions for variant NM_001453.3(FOXC1):c.375C>T (p.Ser125=)

gnomAD frequency: 0.00001  dbSNP: rs765626020
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001489644 SCV001694192 likely benign Axenfeld-Rieger syndrome type 3 2017-12-14 criteria provided, single submitter clinical testing

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