ClinVar Miner

Submissions for variant NM_002052.5(GATA4):c.1273G>A (p.Asp425Asn) (rs56208331)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000190715 SCV000244156 uncertain significance Inborn genetic diseases 2013-07-01 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000431077 SCV000511051 benign not provided 2016-09-20 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000626818 SCV000747521 uncertain significance Pulmonic stenosis; Tricuspid regurgitation; Pulmonary valve atresia 2017-01-01 criteria provided, single submitter clinical testing
Invitae RCV000549514 SCV000652001 benign Atrioventricular septal defect 4 2017-12-08 criteria provided, single submitter clinical testing
OMIM RCV000009600 SCV000029818 pathogenic Atrial septal defect 2 2007-12-01 no assertion criteria provided literature only
OMIM RCV000009601 SCV000029819 pathogenic Tetralogy of Fallot 2007-12-01 no assertion criteria provided literature only

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