Submissions for variant NM_181486.4(TBX5):c.786C>T (p.Thr262=)

gnomAD frequency: 0.00006  dbSNP: rs375955080

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000314668	SCV000344098	benign	not specified	2016-09-02	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000360501	SCV000376503	likely benign	Holt-Oram syndrome	2017-04-28	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000360501	SCV000745546	benign	Holt-Oram syndrome	2015-09-21	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001514005	SCV001721736	benign	Aortic valve disease 2	2024-10-30	criteria provided, single submitter	clinical testing
GeneDx	RCV000864590	SCV001864327	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002411176	SCV002676813	likely benign	Cardiovascular phenotype	2019-12-23	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.
CeGaT Center for Human Genetics Tuebingen	RCV000864590	SCV004132003	likely benign	not provided	2023-01-01	criteria provided, single submitter	clinical testing	TBX5: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics	RCV000864590	SCV005218845	likely benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000360501	SCV000733136	benign	Holt-Oram syndrome		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003930176	SCV004737846	benign	TBX5-related disorder	2019-11-04	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).