ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.94+16236G>A

dbSNP: rs1409106424
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001444361 SCV001647358 likely benign Familial thoracic aortic aneurysm and aortic dissection 2017-12-05 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV004027794 SCV005016402 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 rs1409106424 with diabetic retinopathy.

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