Submissions for variant NM_003242.6(TGFBR2):c.1525-8C>T

gnomAD frequency: 0.00230  dbSNP: rs11466530

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000197051	SCV000250919	benign	not specified	2014-08-22	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.
Illumina Laboratory Services, Illumina	RCV000323836	SCV000442898	likely benign	Marfan syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000376166	SCV000442899	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000286110	SCV000442900	likely benign	Loeys-Dietz syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV000376166	SCV000559161	benign	Familial thoracic aortic aneurysm and aortic dissection	2024-01-25	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000197051	SCV000855951	benign	not specified	2017-07-26	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001812200	SCV001159689	benign	not provided	2019-11-09	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000376166	SCV001346133	benign	Familial thoracic aortic aneurysm and aortic dissection	2018-11-16	criteria provided, single submitter	clinical testing