ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.690G>A (p.Thr230=) (rs201560560)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000363353 SCV000442850 uncertain significance Marfan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000266417 SCV000442851 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000323947 SCV000442852 uncertain significance Loeys-Dietz syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000604014 SCV000715903 likely benign not specified 2017-08-23 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.
Invitae RCV000266417 SCV001007059 benign Familial thoracic aortic aneurysm and aortic dissection 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001171831 SCV001334702 likely benign not provided 2020-04-01 criteria provided, single submitter clinical testing
Color RCV000266417 SCV001353190 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-01-07 criteria provided, single submitter clinical testing

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