ClinVar Miner

Submissions for variant NM_001308093.3(GATA4):c.1328C>G (p.Ala443Gly)

dbSNP: rs146017816
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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 RCV000458303 SCV000541492 likely benign Atrioventricular septal defect 4 2024-07-08 criteria provided, single submitter clinical testing
GeneDx RCV001662416 SCV001874120 likely benign not provided 2021-02-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV004022546 SCV003742020 likely benign Cardiovascular phenotype 2021-11-15 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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