ClinVar Miner

Submissions for variant NM_001024847.2(TGFBR2):c.-307C>T (rs749340193)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000262441 SCV000442808 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000301197 SCV000442809 uncertain significance Loeys-Dietz syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000353680 SCV000442810 uncertain significance Marfan syndrome 2016-06-14 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000262441 SCV000900732 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2017-05-19 criteria provided, single submitter clinical testing

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