Submissions for variant NM_001077653.2(TBX20):c.1017A>C (p.Thr339=)

gnomAD frequency: 0.00547  dbSNP: rs112054378

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000620994	SCV000735187	benign	Cardiovascular phenotype	2015-10-23	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000607380	SCV000745174	benign	Atrial septal defect 4	2017-06-28	criteria provided, single submitter	clinical testing
Invitae	RCV000874684	SCV001016891	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000874684	SCV001767039	likely benign	not provided	2021-01-05	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000607380	SCV000734552	likely benign	Atrial septal defect 4		no assertion criteria provided	clinical testing