ClinVar Miner

Submissions for variant NM_001453.3(FOXC1):c.457A>C (p.Thr153Pro)

dbSNP: rs1057519476
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV000416526 SCV000494257 uncertain significance Axenfeld-Rieger syndrome type 3 2015-07-07 no assertion criteria provided clinical testing

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