ClinVar Miner

Submissions for variant NM_001453.3(FOXC1):c.1464GGC[5] (p.Ala495del)

dbSNP: rs747574884
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002085662 SCV002373261 likely benign Axenfeld-Rieger syndrome type 3 2023-07-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003434403 SCV004158209 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing FOXC1: BS1

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