ClinVar Miner

Submissions for variant NM_005445.4(SMC3):c.2399T>C (p.Leu800Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn RCV002512473 SCV002822883 likely pathogenic Cornelia de Lange syndrome 3 criteria provided, single submitter clinical testing

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