Submissions for variant NM_003239.5(TGFB3):c.744C>A (p.Ile248=)

gnomAD frequency: 0.00123  dbSNP: rs45477900

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002518334	SCV000287912	benign	Rienhoff syndrome	2025-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002310823	SCV000319691	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2015-06-12	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.
GeneDx	RCV001579942	SCV000532151	likely benign	not provided	2021-03-30	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000435872	SCV001362853	benign	not specified	2019-09-20	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001579942	SCV001474588	benign	not provided	2024-06-10	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV002310823	SCV003837798	benign	Familial thoracic aortic aneurysm and aortic dissection	2021-06-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001579942	SCV004130134	benign	not provided	2024-10-01	criteria provided, single submitter	clinical testing	TGFB3: BP4, BS1, BS2
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579942	SCV001809125	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000435872	SCV001932988	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001579942	SCV001974256	likely benign	not provided		no assertion criteria provided	clinical testing