ClinVar Miner

Submissions for variant NM_012401.4(PLXNB2):c.5197-337_5310del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Leeds Amelogenesis Imperfecta Research Group, University of Leeds RCV003313289 SCV002822960 pathogenic See cases 2023-01-04 no assertion criteria provided research Variant not indentified in Conrad et al. catalogue of CNVs

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