Submissions for variant NM_005257.6(GATA6):c.1605A>G (p.Gln535=)

gnomAD frequency: 0.00045  dbSNP: rs117646477

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000226486	SCV000288848	benign	Atrioventricular septal defect 5	2024-01-20	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000380654	SCV000337347	benign	not specified	2015-11-16	criteria provided, single submitter	clinical testing
GeneDx	RCV001539615	SCV001757407	benign	not provided	2019-04-22	criteria provided, single submitter	clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV002463665	SCV002605222	uncertain significance	Neonatal insulin-dependent diabetes mellitus		criteria provided, single submitter	research	Potent mutations in GATA6 gene are associated with neonatal diabetes, decreased insulin production due to pancreatic aplasia or hypoplasia. Also associated with isolated cardiac abnormalities in children, like atrial septal defects.However no sufficient evidence is found to ascertain the role of this particular variant rs117646477 yet.
CeGaT Center for Human Genetics Tuebingen	RCV001539615	SCV004137767	likely benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	GATA6: BP4, BP7, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV001539615	SCV005251244	benign	not provided		criteria provided, single submitter	not provided