ClinVar Miner

Submissions for variant NM_005257.6(GATA6):c.969CCA[11] (p.His333dup)

dbSNP: rs562588574
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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 RCV000470072 SCV000541488 likely benign Atrioventricular septal defect 5 2025-01-26 criteria provided, single submitter clinical testing
GeneDx RCV001591060 SCV001824352 likely benign not provided 2022-07-08 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Genetic Services Laboratory, University of Chicago RCV001821224 SCV002067309 benign not specified 2021-05-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003942470 SCV004775802 likely benign GATA6-related disorder 2020-01-28 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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