ClinVar Miner

Submissions for variant NM_001453.3(FOXC1):c.1443C>T (p.Asp481=)

gnomAD frequency: 0.00017  dbSNP: rs183970787
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000435493 SCV000530863 likely benign not specified 2016-08-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002522445 SCV003267914 likely benign Axenfeld-Rieger syndrome type 3 2023-12-18 criteria provided, single submitter clinical testing

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