ClinVar Miner

Submissions for variant NM_001453.3(FOXC1):c.846G>A (p.Pro282=)

dbSNP: rs1261991191
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000762250 SCV000892538 likely benign not provided 2018-10-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003509600 SCV004286579 likely benign Axenfeld-Rieger syndrome type 3 2023-08-20 criteria provided, single submitter clinical testing

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