Submissions for variant NM_003239.5(TGFB3):c.101A>G (p.His34Arg)

gnomAD frequency: 0.00008  dbSNP: rs199791687

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002534411	SCV000832217	likely benign	Rienhoff syndrome	2023-08-24	criteria provided, single submitter	clinical testing
GeneDx	RCV001585651	SCV001813517	likely benign	not provided	2019-09-23	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002360810	SCV002666687	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2020-12-03	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.
Fulgent Genetics, Fulgent Genetics	RCV002485743	SCV002796870	likely benign	Arrhythmogenic right ventricular dysplasia 1; Rienhoff syndrome	2021-11-12	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004740415	SCV005366236	likely benign	TGFB3-related disorder	2024-05-29	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).