Submissions for variant NM_003239.5(TGFB3):c.504C>T (p.Ile168=)

gnomAD frequency: 0.00007  dbSNP: rs148029842

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002526485	SCV000561273	likely benign	Rienhoff syndrome	2024-12-30	criteria provided, single submitter	clinical testing
GeneDx	RCV001584190	SCV001811607	likely benign	not provided	2020-08-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002341110	SCV002641005	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2022-02-21	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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV002341110	SCV003837800	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2023-01-03	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003488626	SCV004242111	benign	not specified	2023-12-10	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003970345	SCV004779152	likely benign	TGFB3-related disorder	2019-08-20	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).