Submissions for variant NM_003242.6(TGFBR2):c.1602G>A (p.Val534=)

gnomAD frequency: 0.00166  dbSNP: rs140818646

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000125493	SCV000168945	benign	not specified	2014-04-22	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
PreventionGenetics, part of Exact Sciences	RCV000125493	SCV000309519	likely benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000248591	SCV000317316	benign	Familial thoracic aortic aneurysm and aortic dissection	2016-09-20	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Illumina Laboratory Services, Illumina	RCV000336388	SCV000442901	likely benign	Loeys-Dietz syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000372324	SCV000442902	likely benign	Marfan syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000248591	SCV000442903	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000248591	SCV000559162	benign	Familial thoracic aortic aneurysm and aortic dissection	2025-02-03	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000248591	SCV000913754	benign	Familial thoracic aortic aneurysm and aortic dissection	2018-03-08	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001579926	SCV002544779	likely benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	TGFBR2: BP4, BS1
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277273	SCV002566158	benign	Ehlers-Danlos syndrome	2021-06-14	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV003997433	SCV004841440	benign	Loeys-Dietz syndrome 2	2024-02-05	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001579926	SCV005258387	likely benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579926	SCV001809061	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001579926	SCV001976302	likely benign	not provided		no assertion criteria provided	clinical testing