ClinVar Miner

Submissions for variant NM_001308093.3(GATA4):c.127C>A (p.Arg43=)

gnomAD frequency: 0.00006  dbSNP: rs387906770
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001490874 SCV001695447 likely benign Atrioventricular septal defect 4 2023-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV003307612 SCV004001006 likely benign Cardiovascular phenotype 2023-04-29 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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