ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.*1880G>A

gnomAD frequency: 0.01174  dbSNP: rs11466534
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000366654 SCV000443036 likely benign Loeys-Dietz syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000264013 SCV000443037 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000302767 SCV000443038 likely benign Marfan syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001840494 SCV002099742 likely benign not provided 2021-08-30 criteria provided, single submitter clinical testing

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