Submissions for variant NM_004612.4(TGFBR1):c.575-9dup

dbSNP: rs863223798

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000200458	SCV000250855	benign	not specified	2015-03-03	criteria provided, single submitter	clinical testing	This variant was found in TAADV2-PANCARD,TAAD,TAADV2-1
Illumina Laboratory Services, Illumina	RCV000306733	SCV000475627	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000363637	SCV000475628	likely benign	Loeys-Dietz syndrome 1	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000271297	SCV000475629	likely benign	Loeys-Dietz syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000306733	SCV001344539	benign	Familial thoracic aortic aneurysm and aortic dissection	2018-10-08	criteria provided, single submitter	clinical testing
Invitae	RCV000306733	SCV002342628	benign	Familial thoracic aortic aneurysm and aortic dissection	2024-01-31	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000200458	SCV002500511	benign	not specified	2022-03-19	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277546	SCV002566143	benign	Ehlers-Danlos syndrome	2020-08-10	criteria provided, single submitter	clinical testing