ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.*312_*313AT[11] (rs4016180)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000385363 SCV000442922 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000296091 SCV000442923 uncertain significance Loeys-Dietz syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000350961 SCV000442924 uncertain significance Marfan syndrome 2016-06-14 criteria provided, single submitter clinical testing

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