ClinVar Miner

Submissions for variant NC_000006.12:g.(?_1610445)_(1612107_?)del

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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 RCV000416555 SCV000494267 pathogenic Axenfeld-Rieger syndrome type 3 2015-03-24 no assertion criteria provided clinical testing

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