Submissions for variant NM_001379200.1(TBX1):c.955G>A (p.Gly319Ser)

gnomAD frequency: 0.00148  dbSNP: rs41298838

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000008000	SCV000625769	benign	DiGeorge syndrome	2025-01-23	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000618981	SCV000735260	benign	Cardiovascular phenotype	2016-01-06	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.
GeneDx	RCV000828677	SCV000970374	benign	not provided	2017-08-28	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Mendelics	RCV000008000	SCV001141330	benign	DiGeorge syndrome	2019-05-28	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000828677	SCV005275276	benign	not provided		criteria provided, single submitter	not provided
OMIM	RCV000008000	SCV000028205	pathogenic	DiGeorge syndrome	2003-10-25	no assertion criteria provided	literature only