ClinVar Miner

Submissions for variant NM_001308093.3(GATA4):c.1001-4C>G

gnomAD frequency: 0.00024  dbSNP: rs199915980
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000465168 SCV000554409 benign Atrioventricular septal defect 4 2024-01-24 criteria provided, single submitter clinical testing
GeneDx RCV001558710 SCV001780714 likely benign not provided 2019-12-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002383848 SCV002695268 likely benign Cardiovascular phenotype 2021-12-04 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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