ClinVar Miner

Submissions for variant NM_001308093.3(GATA4):c.397A>T (p.Ser133Cys)

dbSNP: rs864321701
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cytogenetics- Mohapatra Lab, Banaras Hindu University RCV000203586 SCV000258961 pathogenic Congenital heart disease 2013-05-15 no assertion criteria provided case-control 1 individual diagnosed with Atrial Septal defect with pulmonary stenosis

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