Submissions for variant NM_001379200.1(TBX1):c.215CGC[6] (p.Pro76dup)

dbSNP: rs1009463279

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000874706	SCV001016918	benign	DiGeorge syndrome	2025-01-23	criteria provided, single submitter	clinical testing
GeneDx	RCV001550009	SCV001770267	likely benign	not provided	2022-06-13	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Ambry Genetics	RCV002416067	SCV002721561	likely benign	Cardiovascular phenotype	2017-12-29	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
PreventionGenetics, part of Exact Sciences	RCV003967914	SCV004785996	likely benign	TBX1-related disorder	2023-08-11	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).