ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.621G>A (p.Arg207=) (rs886058304)

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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 RCV000365458 SCV000442847 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000400569 SCV000442848 uncertain significance Marfan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000306258 SCV000442849 uncertain significance Loeys-Dietz syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000877540 SCV001020286 likely benign not provided 2018-02-09 criteria provided, single submitter clinical testing

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