ClinVar Miner

Submissions for variant NM_005445.4(SMC3):c.2464G>T (p.Glu822Ter)

dbSNP: rs2134750874
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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 Medical Genetics and Applied Genomics, University Hospital Tübingen RCV003315369 SCV001905608 uncertain significance Cornelia de Lange syndrome 3 2023-07-21 criteria provided, single submitter clinical testing

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