ClinVar Miner

Submissions for variant NM_005257.6(GATA6):c.533C>T (p.Ala178Val)

gnomAD frequency: 0.00087  dbSNP: rs387906815
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000023130 SCV001001241 likely benign Atrioventricular septal defect 5 2025-01-14 criteria provided, single submitter clinical testing
Personalized Diabetes Medicine Program, University of Maryland School of Medicine RCV001174440 SCV001337579 benign Monogenic diabetes 2018-01-26 criteria provided, single submitter research ACMG criteria: PP3 (6 predictors), BP4 (4 predictors), BS1 (1.01% in ExAC African pop.), BS2 (2 homozyotes and 34 hets for dominant condition)=benign
GeneDx RCV001537624 SCV001754525 likely benign not provided 2021-01-20 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 20581743)
OMIM RCV000023130 SCV000044421 pathogenic Atrioventricular septal defect 5 2010-10-01 no assertion criteria provided literature only

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