ClinVar Miner

Submissions for variant NM_001308093.3(GATA4):c.1089T>C (p.Arg363=)

dbSNP: rs143385784
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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 RCV000866994 SCV001008174 likely benign Atrioventricular septal defect 4 2024-12-17 criteria provided, single submitter clinical testing
GeneDx RCV001585823 SCV001818113 likely benign not provided 2020-11-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV003169135 SCV003855031 likely benign Cardiovascular phenotype 2023-02-18 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.

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