ClinVar Miner

Submissions for variant NM_001308093.3(GATA4):c.726C>T (p.Cys242=)

gnomAD frequency: 0.00021  dbSNP: rs1062215
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000250751 SCV000319689 likely benign Cardiovascular phenotype 2015-06-18 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV000464755 SCV000554406 benign Atrioventricular septal defect 4 2025-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001548257 SCV001768135 likely benign not provided 2020-09-17 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29325903, 20874241, 18672102, 20659440)

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