ClinVar Miner

Submissions for variant NM_001453.3(FOXC1):c.99_108del (p.Gly34fs)

dbSNP: rs2113110837
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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 RCV002272605 SCV002556450 pathogenic Axenfeld-Rieger syndrome type 3 2021-06-27 criteria provided, single submitter clinical testing

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