ClinVar Miner

Submissions for variant NM_005257.6(GATA6):c.222G>A (p.Pro74=)

gnomAD frequency: 0.00327  dbSNP: rs374402554
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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 RCV000229334 SCV000288849 benign Atrioventricular septal defect 5 2025-01-27 criteria provided, single submitter clinical testing
GeneDx RCV001562606 SCV001785396 likely benign not provided 2021-06-19 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818619 SCV002067298 likely benign not specified 2020-07-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001562606 SCV005877070 likely benign not provided 2024-07-12 criteria provided, single submitter clinical testing

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