Submissions for variant NM_003242.5(TGFBR2):c.-307C>T

gnomAD frequency: 0.00006  dbSNP: rs749340193

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000262441	SCV000442808	uncertain significance	Familial thoracic aortic aneurysm and aortic dissection	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000301197	SCV000442809	uncertain significance	Loeys-Dietz syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000353680	SCV000442810	uncertain significance	Marfan syndrome	2016-06-14	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000262441	SCV000900732	uncertain significance	Familial thoracic aortic aneurysm and aortic dissection	2017-05-19	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002487511	SCV002791256	uncertain significance	Loeys-Dietz syndrome 2; Malignant tumor of esophagus; Colorectal cancer, hereditary nonpolyposis, type 6	2021-08-24	criteria provided, single submitter	clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV004021902	SCV005016401	likely benign	Diabetic retinopathy		criteria provided, single submitter	research	Potent mutations in TGFBR2 gene encodes the transforming growth factor that have been associated with angiogenesis and diabetic retinopathy. More clinical studies are needed for stronger association. However, more evidence is required to confer the association of this particular variant rs749340193 with diabetic retinopathy.