ClinVar Miner

Submissions for variant NM_005257.6(GATA6):c.735G>A (p.Gly245=)

gnomAD frequency: 0.00012  dbSNP: rs1031755167
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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 RCV000868484 SCV001009817 likely benign Atrioventricular septal defect 5 2024-12-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501278 SCV002811385 likely benign Conotruncal heart malformations; Pancreatic hypoplasia-diabetes-congenital heart disease syndrome; Tetralogy of Fallot; Atrioventricular septal defect 5; Atrial septal defect 9 2021-10-18 criteria provided, single submitter clinical testing

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