ClinVar Miner

Submissions for variant NM_001308093.3(GATA4):c.1125C>T (p.Tyr375=)

gnomAD frequency: 0.00013  dbSNP: rs56330552
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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 RCV000461804 SCV000554417 benign Atrioventricular septal defect 4 2025-01-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV003352878 SCV004076062 likely benign Cardiovascular phenotype 2024-06-13 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.
CeGaT Center for Human Genetics Tuebingen RCV003884551 SCV004700666 likely benign not provided 2024-09-01 criteria provided, single submitter clinical testing GATA4: BP4, BP7

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