ClinVar Miner

Submissions for variant NM_005257.6(GATA6):c.543G>C (p.Ala181=)

gnomAD frequency: 0.00005  dbSNP: rs1462466315
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001468834 SCV001672899 likely benign Atrioventricular septal defect 5 2024-06-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003908711 SCV004720649 likely benign GATA6-related disorder 2019-06-14 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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