ClinVar Miner

Submissions for variant NM_001005273.3(CHD3):c.3851_3852delinsTT (p.Ser1284Ile)

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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, University of Goettingen RCV002571625 SCV002771880 uncertain significance Snijders Blok-Campeau syndrome 2022-06-21 criteria provided, single submitter clinical testing

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