ClinVar Miner

Submissions for variant NM_005257.6(GATA6):c.969CCA[9] (p.His333del)

dbSNP: rs562588574
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117119 SCV000151280 benign Persistent truncus arteriosus 2013-11-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001429510 SCV001632225 likely benign Atrioventricular septal defect 5 2024-05-05 criteria provided, single submitter clinical testing
GeneDx RCV001596966 SCV001831234 benign not provided 2019-09-20 criteria provided, single submitter clinical testing

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