ClinVar Miner

Submissions for variant NM_005257.6(GATA6):c.592C>G (p.Leu198Val)

gnomAD frequency: 0.00068  dbSNP: rs387906814
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000650081 SCV000771918 likely benign Atrioventricular septal defect 5 2024-12-17 criteria provided, single submitter clinical testing
Personalized Diabetes Medicine Program, University of Maryland School of Medicine RCV001174441 SCV001337580 uncertain significance Monogenic diabetes 2018-05-18 criteria provided, single submitter research ACMG criteria: PP3 (6 predictors, REVEL = 0.716), [BP4 (3 predictors)], BS3 (PMID 20581743), previously reported in a child with tetralogy of Fallot and this child has pulmonary stenosis = VUS
GeneDx RCV001588823 SCV001824929 likely benign not provided 2020-03-09 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 20581743)
CeGaT Center for Human Genetics Tuebingen RCV001588823 SCV004042020 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing GATA6: PP3, BS1
OMIM RCV000023129 SCV000044420 pathogenic Tetralogy of Fallot 2010-10-01 no assertion criteria provided literature only

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