ClinVar Miner

Submissions for variant NM_001308093.3(GATA4):c.1001-219G>T

gnomAD frequency: 0.19839  dbSNP: rs4841588
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001520864 SCV001730077 benign Atrioventricular septal defect 4 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001638118 SCV001851844 benign not provided 2018-09-11 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25928801)
Breakthrough Genomics, Breakthrough Genomics RCV001638118 SCV005272404 benign not provided criteria provided, single submitter not provided

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