ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.264-35T>G

gnomAD frequency: 0.00944  dbSNP: rs11466495
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243958 SCV000309521 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000833946 SCV000975714 likely benign not provided 2018-06-14 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.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV004021010 SCV005016439 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 rs11466495 with diabetic retinopathy.
Breakthrough Genomics, Breakthrough Genomics RCV000833946 SCV005258383 likely benign not provided criteria provided, single submitter not provided

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