ClinVar Miner

Submissions for variant NM_005257.6(GATA6):c.660C>T (p.Gly220=)

gnomAD frequency: 0.00006  dbSNP: rs1385756157
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001295856 SCV001484806 likely benign Atrioventricular septal defect 5 2022-11-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493554 SCV002778252 uncertain significance Conotruncal heart malformations; Pancreatic hypoplasia-diabetes-congenital heart disease syndrome; Tetralogy of Fallot; Atrioventricular septal defect 5; Atrial septal defect 9 2022-02-17 criteria provided, single submitter clinical testing

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