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 RCV001171831 SCV000715903 likely benign not provided 2019-06-17 criteria provided, single submitter clinical testing
Invitae RCV000266417 SCV001007059 benign Familial thoracic aortic aneurysm and aortic dissection 2020-07-23 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 Health, Inc RCV000266417 SCV001353190 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-01-07 criteria provided, single submitter clinical testing

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