ClinVar Miner

Submissions for variant NM_001329.4(CTBP2):c.22A>T (p.Lys8Ter)

dbSNP: rs76555439
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pathology and Clinical Laboratory Medicine, King Fahad Medical City RCV001824218 SCV002073834 benign not specified criteria provided, single submitter clinical testing
Henan Key Laboratory of Chronic Disease Management, Central China Fuwai Hospital of Zhengzhou University, Fuwai Central China Cardiovascular Hospital & Central China Branch of National Center for Cardiovascular Diseases RCV002512160 SCV002549077 pathogenic Pulmonary artery atresia no assertion criteria provided clinical testing

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