ClinVar Miner

Submissions for variant NM_001453.3(FOXC1):c.1020G>A (p.Ser340=)

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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 RCV003007340 SCV003305471 likely benign Axenfeld-Rieger syndrome type 3 2022-05-09 criteria provided, single submitter clinical testing

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