ClinVar Miner

Submissions for variant NM_005257.5(GATA6):c.1723G>C (p.Ala575Pro) (rs149569288)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001085967 SCV000554396 likely benign Atrioventricular septal defect 5 2019-12-31 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514657 SCV000609833 likely benign not provided 2017-03-10 criteria provided, single submitter clinical testing
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV000664151 SCV000787603 likely benign Monogenic diabetes 2017-12-21 criteria provided, single submitter research ACMG criteria: PP3 (6 predictors), BP4 (5 predictors), BS2 (139 hets in gnomAD)=Likely benign

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