Submissions for variant NM_003239.5(TGFB3):c.558C>T (p.Ile186=)

gnomAD frequency: 0.00009  dbSNP: rs138389291

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000458072	SCV000532885	likely benign	not provided	2019-11-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002522559	SCV001674604	likely benign	Rienhoff syndrome	2024-11-17	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002348234	SCV002649143	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2021-03-01	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.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000458072	SCV001926666	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000458072	SCV001970411	likely benign	not provided		no assertion criteria provided	clinical testing