ClinVar Miner

Submissions for variant NM_005257.6(GATA6):c.1374C>T (p.Asn458=)

gnomAD frequency: 0.00230  dbSNP: rs143026087
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000230072 SCV000288846 benign Atrioventricular septal defect 5 2024-01-25 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000503741 SCV000594931 likely benign not specified 2017-04-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487075 SCV002802790 likely benign Conotruncal heart malformations; Pancreatic hypoplasia-diabetes-congenital heart disease syndrome; Tetralogy of Fallot; Atrioventricular septal defect 5; Atrial septal defect 9 2021-09-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV003352806 SCV004069949 likely benign Inborn genetic diseases 2023-06-16 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001795368 SCV004562067 benign not provided 2023-11-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001795368 SCV004699555 benign not provided 2024-02-01 criteria provided, single submitter clinical testing GATA6: BP4, BP7, BS1, BS2
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000503741 SCV001926270 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000503741 SCV001951607 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001795368 SCV002036602 likely benign not provided no assertion criteria provided clinical testing

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