ClinVar Miner

Submissions for variant NM_001308093.3(GATA4):c.90G>A (p.Ala30=)

gnomAD frequency: 0.00014  dbSNP: rs768982638
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002120991 SCV002448631 benign Atrioventricular septal defect 4 2021-10-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002443227 SCV002682878 likely benign Cardiovascular phenotype 2021-04-07 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 RCV004046535 SCV004721570 likely benign GATA4-related disorder 2020-06-01 criteria provided, single submitter 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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