ClinVar Miner

Submissions for variant NM_001308093.3(GATA4):c.909C>T (p.His303=)

gnomAD frequency: 0.00002  dbSNP: rs201516339
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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 RCV001479933 SCV001684241 likely benign Atrioventricular septal defect 4 2025-01-06 criteria provided, single submitter clinical testing
GeneDx RCV000868915 SCV002504513 likely benign not provided 2019-12-16 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Ambry Genetics RCV003307621 SCV004001004 likely benign Cardiovascular phenotype 2023-09-20 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.
PreventionGenetics, part of Exact Sciences RCV004027742 SCV004727151 likely benign GATA4-related disorder 2020-11-10 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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