Submissions for variant NM_001379200.1(TBX1):c.1216A>C (p.Asn406His)

gnomAD frequency: 0.17704  dbSNP: rs72646967

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000245695	SCV000317527	benign	Cardiovascular phenotype	2015-06-12	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.
Eurofins Ntd Llc (ga)	RCV000598010	SCV000701114	benign	not specified	2016-12-16	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000713776	SCV000844406	benign	not provided	2018-05-07	criteria provided, single submitter	clinical testing
Invitae	RCV001520751	SCV001729932	benign	DiGeorge syndrome	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000713776	SCV001894596	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000598010	SCV003928649	likely benign	not specified	2023-04-04	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000598010	SCV001918598	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000598010	SCV001930447	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000598010	SCV001953061	benign	not specified		no assertion criteria provided	clinical testing